F16L (p.Phe16Leu) variant of VDR (Vitamin D3 receptor)
F16L (p.Phe16Leu) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F16L (p.Phe16Leu) variant details
- p.Phe16Leu
- 1000Genomes rs11832059
- ESP rs11832059
- ExAC rs11832059
- TOPMed rs11832059
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.48
- MetaLR 0.65
- MetaSVM 0.04
- CADD 17.70
- PolyPhen-2 0.10
- SIFT 0.42
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available