V26L (p.Val26Leu) variant of VDR (Vitamin D3 receptor)
V26L (p.Val26Leu) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
V26L (p.Val26Leu) variant details
- p.Val26Leu
- TOPMed rs1946077078
- gnomAD rs1946077078
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.80
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available