P30L (p.Pro30Leu) variant of CA2 (Carbonic anhydrase 2)
P30L (p.Pro30Leu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD 8-85465326-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.03
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available