S56F (p.Ser56Phe) variant of CA2 (Carbonic anhydrase 2)
S56F (p.Ser56Phe) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S56F (p.Ser56Phe) variant details
- p.Ser56Phe
- gnomAD 8-85465404-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.38
- MetaLR 0.73
- MetaSVM 0.11
- CADD 23.10
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available