G5V (p.Gly5Val) variant of CYP27A1 (Q02318)
G5V (p.Gly5Val) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 2-218782196-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.23
- CADD 19.40
- PolyPhen-2 0.12
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available