D52N (p.Asp52Asn) variant of COL6A2 (Collagen alpha-2(VI) chain)
D52N (p.Asp52Asn) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- gnomAD rs1303247044
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available