D2D (p.Asp2Asp) variant of COL5A1 (Collagen alpha-1(V) chain)
D2D (p.Asp2Asp) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D2D (p.Asp2Asp) variant details
- p.Asp2Asp
- rs1064796482
- gnomAD 9-134642193-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available