Y40H (p.Tyr40His) variant of CA2 (Carbonic anhydrase 2)
Y40H (p.Tyr40His) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Y40H (p.Tyr40His) variant details
- p.Tyr40His
- TOPMed rs1376589900
- gnomAD rs1376589900
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.98
- CADD 9.27
- SIFT 0.59
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available