G43D (p.Gly43Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G43D (p.Gly43Asp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- ExAC rs764877666
- TOPMed rs764877666
- gnomAD rs764877666
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.68
- CADD 24.60
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available