S9L (p.Ser9Leu) variant of KRT12 (Keratin, type I cytoskeletal 12)
S9L (p.Ser9Leu) in KRT12 (Keratin, type I cytoskeletal 12) 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 0.39 / 1. The record also includes population frequency data and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- NCI-TCGA Cosmic COSV5242
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.30
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available