G8D (p.Gly8Asp) variant of CA2 (Carbonic anhydrase 2)
G8D (p.Gly8Asp) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- gnomAD rs1488758352
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.12
- MetaLR 0.24
- MetaSVM -0.94
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available