T59P (p.Thr59Pro) variant of VDR (Vitamin D3 receptor)
T59P (p.Thr59Pro) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T59P (p.Thr59Pro) variant details
- p.Thr59Pro
- ExAC rs771132039
- gnomAD rs771132039
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.85
- MetaLR 0.93
- MetaSVM 1.02
- CADD 25.80
- PolyPhen-2 0.69
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available