D2G (p.Asp2Gly) variant of COL5A1 (Collagen alpha-1(V) chain)
D2G (p.Asp2Gly) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- gnomAD 9-134642192-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.39
- MetaLR 0.59
- MetaSVM -0.24
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available