H3Y (p.His3Tyr) variant of CA2 (Carbonic anhydrase 2)
H3Y (p.His3Tyr) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H3Y (p.His3Tyr) variant details
- p.His3Tyr
- TOPMed rs1302977382
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.31
- MetaLR 0.52
- MetaSVM -0.10
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available