R40H (p.Arg40His) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R40H (p.Arg40His) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- ExAC rs762500774
- TOPMed rs762500774
- gnomAD rs762500774
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.49
- CADD 22.80
- PolyPhen-2 0.90
- SIFT 0.11
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available