S2T (p.Ser2Thr) variant of CA2 (Carbonic anhydrase 2)
S2T (p.Ser2Thr) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- gnomAD 8-85464085-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.17
- MetaLR 0.44
- MetaSVM -0.49
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available