S48C (p.Ser48Cys) variant of CA2 (Carbonic anhydrase 2)
S48C (p.Ser48Cys) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- ExAC rs777837845
- TOPMed rs777837845
- gnomAD rs777837845
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.21
- MetaLR 0.22
- MetaSVM -0.90
- CADD 0.01
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available