D41Y (p.Asp41Tyr) variant of CA2 (Carbonic anhydrase 2)
D41Y (p.Asp41Tyr) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- gnomAD 8-85465358-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.80
- MetaLR 0.68
- MetaSVM 0.65
- CADD 29.80
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available