S38F (p.Ser38Phe) variant of KRT5 (Keratin, type II cytoskeletal 5)
S38F (p.Ser38Phe) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S38F (p.Ser38Phe) variant details
- p.Ser38Phe
- gnomAD rs1168120051
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.35
- CADD 23.70
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available