L57P (p.Leu57Pro) variant of VDR (Vitamin D3 receptor)
L57P (p.Leu57Pro) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- TOPMed rs1421129259
- gnomAD rs1421129259
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.47
- MetaLR 0.81
- MetaSVM -0.21
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available