G43S (p.Gly43Ser) variant of VDR (Vitamin D3 receptor)
G43S (p.Gly43Ser) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- ExAC rs745684501
- gnomAD rs745684501
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.93
- MetaLR 0.92
- MetaSVM 1.04
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.13
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available