G69E (p.Gly69Glu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G69E (p.Gly69Glu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
G69E (p.Gly69Glu) variant details
- p.Gly69Glu
- ExAC rs763187704
- gnomAD rs763187704
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)