A12V (p.Ala12Val) variant of CYP27A1 (Q02318)
A12V (p.Ala12Val) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 2-218782217-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.14
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available