S21F (p.Ser21Phe) variant of KRT1 (Keratin, type II cytoskeletal 1)
S21F (p.Ser21Phe) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.60 / 1. The record also includes population frequency data and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.48
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available