A56G (p.Ala56Gly) variant of VDR (Vitamin D3 receptor)
A56G (p.Ala56Gly) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A56G (p.Ala56Gly) variant details
- p.Ala56Gly
- ExAC rs745949193
- gnomAD rs745949193
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.76
- MetaLR 0.91
- MetaSVM 1.01
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available