A65T (p.Ala65Thr) variant of CA2 (Carbonic anhydrase 2)
A65T (p.Ala65Thr) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- gnomAD 8-85465430-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -0.86
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available