W5L (p.Trp5Leu) variant of CA2 (Carbonic anhydrase 2)
W5L (p.Trp5Leu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
W5L (p.Trp5Leu) variant details
- p.Trp5Leu
- gnomAD rs1489935449
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.66
- MetaLR 0.80
- MetaSVM 0.74
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available