C31R (p.Cys31Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
C31R (p.Cys31Arg) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
C31R (p.Cys31Arg) variant details
- p.Cys31Arg
- ExAC rs746942788
- gnomAD rs746942788
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.22
- CADD 3.23
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available