Y40C (p.Tyr40Cys) variant of CA2 (Carbonic anhydrase 2)
Y40C (p.Tyr40Cys) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- gnomAD rs1262835490
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.30
- MetaLR 0.40
- MetaSVM -0.39
- CADD 24.50
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available