A7S (p.Ala7Ser) variant of CYP27A1 (Q02318)
A7S (p.Ala7Ser) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 2-218782201-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.14
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available