I59T (p.Ile59Thr) variant of CA2 (Carbonic anhydrase 2)
I59T (p.Ile59Thr) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I59T (p.Ile59Thr) variant details
- p.Ile59Thr
- gnomAD rs1232519022
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.74
- MetaLR 0.65
- MetaSVM 0.58
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available