S19L (p.Ser19Leu) variant of KRT4 (Keratin, type II cytoskeletal 4)
S19L (p.Ser19Leu) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.67 / 1. The record also includes population frequency data and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- rs761182348
- NCI-TCGA Cosmic COSV9954
- ExAC rs761182348
- TOPMed rs761182348
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.61
- CADD 24.40
- PolyPhen-2 0.82
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available