G34S (p.Gly34Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G34S (p.Gly34Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- ExAC rs759217642
- gnomAD rs759217642
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)