K9E (p.Lys9Glu) variant of CA2 (Carbonic anhydrase 2)
K9E (p.Lys9Glu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- gnomAD 8-85464106-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -1.00
- CADD 9.15
- PolyPhen-2 0.00
- SIFT 0.95
- Population evidence available
- Structural context available
- Literature evidence available