M59R (p.Met59Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
M59R (p.Met59Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
M59R (p.Met59Arg) variant details
- p.Met59Arg
- gnomAD rs886043225
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.66
- AlphaMissense 0.43
- MetaLR 0.47
- MetaSVM -0.11
- CADD 27.20
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available