S28F (p.Ser28Phe) variant of KRT5 (Keratin, type II cytoskeletal 5)
S28F (p.Ser28Phe) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- rs1312675397
- TOPMed rs1312675397
- gnomAD rs1312675397
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.20
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available