L117P (p.Leu117Pro) variant of KRT5 (Keratin, type II cytoskeletal 5)
L117P (p.Leu117Pro) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.30 / 1. The record also includes population frequency data and structural context.
L117P (p.Leu117Pro) variant details
- p.Leu117Pro
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.24
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available