R111K (p.Arg111Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
R111K (p.Arg111Lys) in COL5A2 (Collagen alpha-2(V) chain) 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 0.46 / 1. The record also includes population frequency data and structural context.
R111K (p.Arg111Lys) variant details
- p.Arg111Lys
- NCI-TCGA Cosmic COSV6640
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.35
- CADD 24.90
- PolyPhen-2 0.12
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available