H11Y (p.His11Tyr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
H11Y (p.His11Tyr) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H11Y (p.His11Tyr) variant details
- p.His11Tyr
- ExAC rs758533268
- gnomAD rs758533268
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available