A2V (p.Ala2Val) variant of CYP27A1 (Q02318)
A2V (p.Ala2Val) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1213986887
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available