A3G (p.Ala3Gly) variant of CYP27A1 (Q02318)
A3G (p.Ala3Gly) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- gnomAD 2-218782190-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.35
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available