G12V (p.Gly12Val) variant of CA2 (Carbonic anhydrase 2)
G12V (p.Gly12Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 8-85465272-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.77
- MetaLR 0.87
- MetaSVM 1.00
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available