S54F (p.Ser54Phe) variant of KRT14 (Keratin, type I cytoskeletal 14)
S54F (p.Ser54Phe) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- gnomAD rs11551751
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.31
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available