C7R (p.Cys7Arg) variant of KRT2 (P35908)
C7R (p.Cys7Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
C7R (p.Cys7Arg) variant details
- p.Cys7Arg
- gnomAD rs1263477050
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.26
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available