R10M (p.Arg10Met) variant of CYP27A1 (Q02318)
R10M (p.Arg10Met) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R10M (p.Arg10Met) variant details
- p.Arg10Met
- gnomAD 2-218782211-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.33
- CADD 24.00
- PolyPhen-2 0.16
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available