M52V (p.Met52Val) variant of VDR (Vitamin D3 receptor)
M52V (p.Met52Val) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
M52V (p.Met52Val) variant details
- p.Met52Val
- ExAC rs773055192
- TOPMed rs773055192
- gnomAD rs773055192
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.67
- MetaLR 0.70
- MetaSVM 0.45
- CADD 23.80
- PolyPhen-2 0.33
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available