P22S (p.Pro22Ser) variant of CYP27A1 (Q02318)
P22S (p.Pro22Ser) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- gnomAD 2-218782246-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.07
- CADD 12.60
- PolyPhen-2 0.02
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available