M70V (p.Met70Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
M70V (p.Met70Val) in COL6A2 (Collagen alpha-2(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 0.37 / 1. The record also includes population frequency data and structural context.
M70V (p.Met70Val) variant details
- p.Met70Val
- rs1006510673
- TOPMed rs1006510673
- gnomAD rs1006510673
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.23
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.52
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available