M39V (p.Met39Val) variant of VDR (Vitamin D3 receptor)
M39V (p.Met39Val) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- ExAC rs775226600
- gnomAD rs775226600
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.88
- MetaLR 0.81
- MetaSVM 0.79
- CADD 24.60
- PolyPhen-2 0.22
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available