S8F (p.Ser8Phe) variant of KRT5 (Keratin, type II cytoskeletal 5)
S8F (p.Ser8Phe) 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 0.28 / 1. The record also includes population frequency data and structural context.
S8F (p.Ser8Phe) variant details
- p.Ser8Phe
- rs913174272
- NCI-TCGA Cosmic COSV9935
- gnomAD rs913174272
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.12
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available