S43P (p.Ser43Pro) variant of CA2 (Carbonic anhydrase 2)
S43P (p.Ser43Pro) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- gnomAD 8-85465364-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.17
- MetaLR 0.20
- MetaSVM -0.83
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available