A3V (p.Ala3Val) variant of CYP27A1 (Q02318)
A3V (p.Ala3Val) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 2-218782190-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.08
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available