G8A (p.Gly8Ala) variant of CA2 (Carbonic anhydrase 2)
G8A (p.Gly8Ala) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- gnomAD 8-85464104-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.14
- MetaLR 0.31
- MetaSVM -0.89
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available