I59F (p.Ile59Phe) variant of CA2 (Carbonic anhydrase 2)
I59F (p.Ile59Phe) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I59F (p.Ile59Phe) variant details
- p.Ile59Phe
- gnomAD 8-85465412-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.58
- MetaLR 0.43
- MetaSVM -0.11
- CADD 23.70
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available