R10G (p.Arg10Gly) variant of CYP27A1 (Q02318)
R10G (p.Arg10Gly) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- gnomAD 2-218782210-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available