G17D (p.Gly17Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G17D (p.Gly17Asp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- ExAC rs774212057
- gnomAD rs774212057
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.20
- CADD 20.90
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available