A40S (p.Ala40Ser) variant of CYP27A1 (Q02318)
A40S (p.Ala40Ser) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- gnomAD 2-218782300-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.06
- CADD 8.14
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available