Genomic position | 1:70505093G>A | 19:6416869C>A | 19:55286658A>T |
---|---|---|---|
Gene | LRRC7 | KHSRP | KIR2DL1 |
Variation type | Missense | Missense | Missense |
Amino acid change | Val1158Ile | Gly403Cys | Thr138Ser |
Conservation of nucleotide | Weak | High | Not conserved |
Conservation of amino acid | High | Moderate | Weak |
SIFT | Tolerated (score 0.37, median 4.32) | Deleterious (score 0.03, median 3.54) | Tolerated (score 0.73, median 3.01) |
Mutation taster | Polymorphism (p value 0.999) | Disease causing (p value 0.996) | Polymorphism (p value 1) |