S50S (p.Ser50Ser) variant of CA2 (Carbonic anhydrase 2)
S50S (p.Ser50Ser) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- rs749302504
- gnomAD 8-85465387-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 3.72
- Population evidence available
- Structural context available
- Literature evidence available