G17A (p.Gly17Ala) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G17A (p.Gly17Ala) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- ExAC rs774212057
- gnomAD rs774212057
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.12
- CADD 15.60
- PolyPhen-2 0.27
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available