V49M (p.Val49Met) variant of KRT13 (Keratin, type I cytoskeletal 13)
V49M (p.Val49Met) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.03 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- rs768649405
- NCI-TCGA Cosmic COSV5584
- cosmic curated COSV55840
- ExAC rs768649405
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0285
- REVEL 0.01
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available