R16Q (p.Arg16Gln) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R16Q (p.Arg16Gln) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- ExAC rs761780446
- gnomAD rs761780446
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.12
- CADD 18.60
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available