T35A (p.Thr35Ala) variant of CA2 (Carbonic anhydrase 2)
T35A (p.Thr35Ala) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- TOPMed rs1586010813
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.27
- MetaLR 0.22
- MetaSVM -0.83
- CADD 17.50
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available