D2N (p.Asp2Asn) variant of COL5A1 (Collagen alpha-1(V) chain)
D2N (p.Asp2Asn) 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.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- gnomAD 9-134642191-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.24
- MetaLR 0.58
- MetaSVM -0.40
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available