G15R (p.Gly15Arg) variant of CYP27A1 (Q02318)
G15R (p.Gly15Arg) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- gnomAD 2-218782225-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.12
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available