G49D (p.Gly49Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G49D (p.Gly49Asp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- ExAC rs771272231
- TOPMed rs771272231
- gnomAD rs771272231
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.43
- CADD 16.30
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available