R2M (p.Arg2Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
R2M (p.Arg2Met) in COL6A1 (Collagen alpha-1(VI) 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 0.29 / 1. The record also includes population frequency data and structural context.
R2M (p.Arg2Met) variant details
- p.Arg2Met
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.28
- CADD 19.10
- PolyPhen-2 0.44
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available