P46A (p.Pro46Ala) variant of CA2 (Carbonic anhydrase 2)
P46A (p.Pro46Ala) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P46A (p.Pro46Ala) variant details
- p.Pro46Ala
- gnomAD 8-85465373-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.31
- MetaLR 0.26
- MetaSVM -0.67
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available