G24V (p.Gly24Val) variant of CYP27A1 (Q02318)
G24V (p.Gly24Val) 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.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- gnomAD 2-218782253-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.18
- CADD 16.60
- PolyPhen-2 0.08
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available