A3E (p.Ala3Glu) variant of VDR (Vitamin D3 receptor)
A3E (p.Ala3Glu) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- ESP rs199938161
- ExAC rs199938161
- TOPMed rs199938161
- gnomAD rs199938161
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.29
- MetaLR 0.47
- MetaSVM -0.37
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available