A43T (p.Ala43Thr) variant of CYP27A1 (Q02318)
A43T (p.Ala43Thr) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- 1000Genomes rs558814935
- ExAC rs558814935
- gnomAD rs558814935
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.05
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available