C32R (p.Cys32Arg) variant of KRT13 (Keratin, type I cytoskeletal 13)
C32R (p.Cys32Arg) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C32R (p.Cys32Arg) variant details
- p.Cys32Arg
- ExAC rs763742361
- TOPMed rs763742361
- gnomAD rs763742361
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.11
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available