V31A (p.Val31Ala) variant of CA2 (Carbonic anhydrase 2)
V31A (p.Val31Ala) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V31A (p.Val31Ala) variant details
- p.Val31Ala
- gnomAD 8-85465329-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.56
- MetaLR 0.80
- MetaSVM 1.05
- CADD 26.00
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available