T37A (p.Thr37Ala) variant of CA2 (Carbonic anhydrase 2)
T37A (p.Thr37Ala) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T37A (p.Thr37Ala) variant details
- p.Thr37Ala
- gnomAD 8-85465346-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.03
- CADD 7.60
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available