V8G (p.Val8Gly) variant of COL6A2 (Collagen alpha-2(VI) chain)
V8G (p.Val8Gly) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V8G (p.Val8Gly) variant details
- p.Val8Gly
- gnomAD rs1378759186
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.53
- CADD 7.82
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available