A30T (p.Ala30Thr) variant of CYP27A1 (Q02318)
A30T (p.Ala30Thr) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD 2-218782270-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.16
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available