A78S (p.Ala78Ser) variant of VDR (Vitamin D3 receptor)
A78S (p.Ala78Ser) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- TOPMed rs770243189
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.62
- MetaLR 0.87
- MetaSVM 0.84
- CADD 25.30
- PolyPhen-2 0.46
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available