A3S (p.Ala3Ser) variant of CYP27A1 (Q02318)
A3S (p.Ala3Ser) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 2-218782189-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.13
- CADD 17.90
- PolyPhen-2 0.17
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available