R8S (p.Arg8Ser) variant of CYP27A1 (Q02318)
R8S (p.Arg8Ser) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 2-218782206-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.51
- CADD 23.50
- PolyPhen-2 0.22
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available