S153R (p.Ser153Arg) variant of KRT13 (Keratin, type I cytoskeletal 13)
S153R (p.Ser153Arg) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S153R (p.Ser153Arg) variant details
- p.Ser153Arg
- ExAC rs771980528
- gnomAD rs771980528
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.57
- CADD 20.10
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available