G6W (p.Gly6Trp) variant of CA2 (Carbonic anhydrase 2)
G6W (p.Gly6Trp) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G6W (p.Gly6Trp) variant details
- p.Gly6Trp
- gnomAD 8-85464097-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available