R63Q (p.Arg63Gln) variant of KRT5 (Keratin, type II cytoskeletal 5)
R63Q (p.Arg63Gln) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R63Q (p.Arg63Gln) variant details
- p.Arg63Gln
- ESP rs375273687
- ExAC rs375273687
- TOPMed rs375273687
- gnomAD rs375273687
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available