M59V (p.Met59Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
M59V (p.Met59Val) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M59V (p.Met59Val) variant details
- p.Met59Val
- gnomAD 21-46112038-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.36
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available