H107R (p.His107Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
H107R (p.His107Arg) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
H107R (p.His107Arg) variant details
- p.His107Arg
- TOPMed rs1247421367
- gnomAD rs1247421367
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 21.70
- PolyPhen-2 0.81
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00015)