E92A (p.Glu92Ala) variant of VDR (Vitamin D3 receptor)
E92A (p.Glu92Ala) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E92A (p.Glu92Ala) variant details
- p.Glu92Ala
- TOPMed rs1370224730
- gnomAD rs1370224730
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.06
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available