S20F (p.Ser20Phe) variant of KRT13 (Keratin, type I cytoskeletal 13)
S20F (p.Ser20Phe) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- gnomAD rs1351013176
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.39
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available