S51C (p.Ser51Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
S51C (p.Ser51Cys) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.38 / 1. The record also includes population frequency data and structural context.
S51C (p.Ser51Cys) variant details
- p.Ser51Cys
- NCI-TCGA Cosmic COSV9987
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.19
- CADD 14.70
- PolyPhen-2 0.03
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available