T40A (p.Thr40Ala) variant of VDR (Vitamin D3 receptor)
T40A (p.Thr40Ala) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- ExAC rs769440230
- gnomAD rs769440230
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.96
- MetaLR 0.93
- MetaSVM 1.06
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available