A16T (p.Ala16Thr) variant of CYP27A1 (Q02318)
A16T (p.Ala16Thr) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD rs1357293342
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.07
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available