G88S (p.Gly88Ser) variant of VDR (Vitamin D3 receptor)
G88S (p.Gly88Ser) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G88S (p.Gly88Ser) variant details
- p.Gly88Ser
- cosmic curated COSV10456
- ExAC rs749851876
- TOPMed rs749851876
- gnomAD rs749851876
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.99
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available