H64Y (p.His64Tyr) variant of CA2 (Carbonic anhydrase 2)
H64Y (p.His64Tyr) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteopetrosis with renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
H64Y (p.His64Tyr) variant details
- p.His64Tyr
- TOPMed rs1488441051
- gnomAD rs1488441051
- Uncertain significance
- Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.63
- MetaLR 0.32
- MetaSVM -0.60
- CADD 23.50
- PolyPhen-2 0.83
- SIFT 0.05
- ClinVar: Uncertain significance (Osteopetrosis with renal tubular acidosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available