G6V (p.Gly6Val) variant of CA2 (Carbonic anhydrase 2)
G6V (p.Gly6Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 8-85464098-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.75
- MetaLR 0.80
- MetaSVM 0.72
- CADD 29.40
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available