G8V (p.Gly8Val) variant of CA2 (Carbonic anhydrase 2)
G8V (p.Gly8Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- gnomAD 8-85464104-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.21
- MetaLR 0.44
- MetaSVM -0.50
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available