T32A (p.Thr32Ala) variant of VDR (Vitamin D3 receptor)
T32A (p.Thr32Ala) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
T32A (p.Thr32Ala) variant details
- p.Thr32Ala
- TOPMed rs1946076281
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.88
- MetaLR 0.93
- MetaSVM 1.08
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available