L120V (p.Leu120Val) variant of VDR (Vitamin D3 receptor)
L120V (p.Leu120Val) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L120V (p.Leu120Val) variant details
- p.Leu120Val
- TOPMed rs1205491426
- gnomAD rs1205491426
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.11
- MetaLR 0.64
- MetaSVM -0.17
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available