S36L (p.Ser36Leu) variant of KRT8 (Keratin, type II cytoskeletal 8)
S36L (p.Ser36Leu) in KRT8 (Keratin, type II cytoskeletal 8) 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.
S36L (p.Ser36Leu) variant details
- p.Ser36Leu
- rs779675126
- NCI-TCGA Cosmic COSV5317
- cosmic curated COSV53176
- ExAC rs779675126
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available