T8P (p.Thr8Pro) variant of VDR (Vitamin D3 receptor)
T8P (p.Thr8Pro) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- ExAC rs776847875
- gnomAD rs776847875
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.54
- MetaLR 0.72
- MetaSVM 0.24
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available