R121L (p.Arg121Leu) variant of VDR (Vitamin D3 receptor)
R121L (p.Arg121Leu) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R121L (p.Arg121Leu) variant details
- p.Arg121Leu
- ESP rs200765991
- ExAC rs200765991
- TOPMed rs200765991
- gnomAD rs200765991
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.39
- MetaLR 0.74
- MetaSVM 0.45
- CADD 23.60
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available