V100L (p.Val100Leu) variant of VDR (Vitamin D3 receptor)
V100L (p.Val100Leu) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V100L (p.Val100Leu) variant details
- p.Val100Leu
- TOPMed rs1334628201
- gnomAD rs1334628201
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.56
- MetaLR 0.75
- MetaSVM 0.57
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available