G5C (p.Gly5Cys) variant of CYP27A1 (Q02318)
G5C (p.Gly5Cys) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 2-218782195-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.19
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available