G39V (p.Gly39Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G39V (p.Gly39Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
G39V (p.Gly39Val) variant details
- p.Gly39Val
- TOPMed rs1188736719
- gnomAD rs1188736719
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)