Y51S (p.Tyr51Ser) variant of CA2 (Carbonic anhydrase 2)
Y51S (p.Tyr51Ser) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
Y51S (p.Tyr51Ser) variant details
- p.Tyr51Ser
- ExAC rs745402787
- gnomAD rs745402787
- Uncertain significance
- Missense
- MetaLR 0.85
- MetaSVM 0.96
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available