R26I (p.Arg26Ile) variant of CYP27A1 (Q02318)
R26I (p.Arg26Ile) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R26I (p.Arg26Ile) variant details
- p.Arg26Ile
- gnomAD 2-218782259-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.47
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available