S58C (p.Ser58Cys) variant of KRT17 (Keratin, type I cytoskeletal 17)
S58C (p.Ser58Cys) in KRT17 (Keratin, type I cytoskeletal 17) 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 0.41 / 1. The record also includes population frequency data and structural context.
S58C (p.Ser58Cys) variant details
- p.Ser58Cys
- rs1355547921
- NCI-TCGA Cosmic COSV6086
- gnomAD rs1355547921
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.27
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available