S43F (p.Ser43Phe) variant of CA2 (Carbonic anhydrase 2)
S43F (p.Ser43Phe) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S43F (p.Ser43Phe) variant details
- p.Ser43Phe
- gnomAD 8-85465365-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- MetaLR 0.38
- MetaSVM -0.70
- CADD 22.20
- PolyPhen-2 0.50
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available