G8C (p.Gly8Cys) variant of CA2 (Carbonic anhydrase 2)
G8C (p.Gly8Cys) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- gnomAD 8-85464103-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.38
- MetaLR 0.51
- MetaSVM -0.16
- CADD 24.20
- PolyPhen-2 0.04
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available