T55A (p.Thr55Ala) variant of CA2 (Carbonic anhydrase 2)
T55A (p.Thr55Ala) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- gnomAD 8-85465400-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.11
- MetaLR 0.14
- MetaSVM -1.03
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available