G17S (p.Gly17Ser) variant of CYP27A1 (Q02318)
G17S (p.Gly17Ser) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- ExAC rs753177502
- gnomAD rs753177502
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.23
- CADD 18.70
- PolyPhen-2 0.03
- SIFT 0.13
- Population evidence available
- Structural context available