L47M (p.Leu47Met) variant of CA2 (Carbonic anhydrase 2)
L47M (p.Leu47Met) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and structural context.
L47M (p.Leu47Met) variant details
- p.Leu47Met
- 1000Genomes rs145096347
- ESP rs145096347
- ExAC rs145096347
- TOPMed rs145096347
- Likely benign
- Missense
- MetaLR 0.62
- MetaSVM 0.27
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available