Y51C (p.Tyr51Cys) variant of CA2 (Carbonic anhydrase 2)
Y51C (p.Tyr51Cys) 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 Inborn genetic diseases; Osteopetrosis with renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y51C (p.Tyr51Cys) variant details
- p.Tyr51Cys
- ExAC rs745402787
- gnomAD rs745402787
- Uncertain significance
- Inborn genetic diseases; Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.69
- MetaLR 0.87
- MetaSVM 0.83
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Osteopetrosis with renal tubular acidos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available