E114A (p.Glu114Ala) variant of VDR (Vitamin D3 receptor)
E114A (p.Glu114Ala) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E114A (p.Glu114Ala) variant details
- p.Glu114Ala
- ExAC rs754919163
- gnomAD rs754919163
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.52
- MetaLR 0.82
- MetaSVM 0.62
- CADD 25.20
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available