F34L (p.Phe34Leu) variant of VDR (Vitamin D3 receptor)
F34L (p.Phe34Leu) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- ExAC rs762363150
- gnomAD rs762363150
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.92
- MetaLR 0.88
- MetaSVM 0.99
- CADD 27.10
- PolyPhen-2 0.54
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available