S144R (p.Ser144Arg) variant of KRT13 (Keratin, type I cytoskeletal 13)
S144R (p.Ser144Arg) in KRT13 (Keratin, type I cytoskeletal 13) 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.
S144R (p.Ser144Arg) variant details
- p.Ser144Arg
- Ensembl rs1905013882
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.14
- CADD 15.30
- PolyPhen-2 0.04
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available