S24L (p.Ser24Leu) variant of KRT17 (Keratin, type I cytoskeletal 17)
S24L (p.Ser24Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs367544262
- ESP rs367544262
- ExAC rs367544262
- TOPMed rs367544262
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.47
- CADD 21.40
- PolyPhen-2 0.97
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available