T37I (p.Thr37Ile) variant of CA2 (Carbonic anhydrase 2)
T37I (p.Thr37Ile) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T37I (p.Thr37Ile) variant details
- p.Thr37Ile
- TOPMed rs1214017154
- gnomAD rs1214017154
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.10
- MetaLR 0.18
- MetaSVM -0.91
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available