S2Y (p.Ser2Tyr) variant of CA2 (Carbonic anhydrase 2)
S2Y (p.Ser2Tyr) 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 0.68 / 1. The record also includes population frequency data and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- gnomAD rs1304894123
- Uncertain significance
- Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.63
- MetaLR 0.68
- MetaSVM 0.55
- CADD 25.00
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (Osteopetrosis with renal tubular acidosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available