V102D (p.Val102Asp) variant of COL6A3 (Collagen alpha-3(VI) chain)
V102D (p.Val102Asp) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V102D (p.Val102Asp) variant details
- p.Val102Asp
- gnomAD rs1382691549
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.90
- MetaLR 0.72
- MetaSVM 0.65
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available