R10Q (p.Arg10Gln) variant of KRT2 (P35908)
R10Q (p.Arg10Gln) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- ExAC rs778051806
- TOPMed rs778051806
- gnomAD rs778051806
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.23
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available