W5C (p.Trp5Cys) variant of CA2 (Carbonic anhydrase 2)
W5C (p.Trp5Cys) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
W5C (p.Trp5Cys) variant details
- p.Trp5Cys
- ESP rs372555587
- TOPMed rs372555587
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.61
- MetaLR 0.77
- MetaSVM 0.53
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available