I33L (p.Ile33Leu) variant of CA2 (Carbonic anhydrase 2)
I33L (p.Ile33Leu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I33L (p.Ile33Leu) variant details
- p.Ile33Leu
- ExAC rs751775209
- gnomAD rs751775209
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.66
- MetaLR 0.72
- MetaSVM 0.34
- CADD 23.90
- PolyPhen-2 0.87
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available