G63V (p.Gly63Val) variant of CA2 (Carbonic anhydrase 2)
G63V (p.Gly63Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G63V (p.Gly63Val) variant details
- p.Gly63Val
- gnomAD 8-85465425-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.96
- MetaLR 0.84
- MetaSVM 0.98
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available