H107Y (p.His107Tyr) variant of CA2 (Carbonic anhydrase 2)
H107Y (p.His107Tyr) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteopetrosis with renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H107Y (p.His107Tyr) variant details
- p.His107Tyr
- rs118203933
- ClinGen CA114625
- ClinVar RCV000000964
- UniProt VAR 001382
- Pathogenic
- Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.88
- MetaLR 0.79
- MetaSVM 0.90
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Osteopetrosis with renal tubular acidosis)
- EBI: Pathogenic (in OPTB3)
- UniProt: Pathogenic (in OPTB3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel… (PMID 15300855)
- Cited in: Molecular basis of human carbonic anhydrase II deficiency. (PMID 1542674)