A5T (p.Ala5Thr) variant of VDR (Vitamin D3 receptor)
A5T (p.Ala5Thr) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- ExAC rs764054471
- TOPMed rs764054471
- gnomAD rs764054471
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.26
- MetaLR 0.67
- MetaSVM 0.11
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available