A3T (p.Ala3Thr) variant of VDR (Vitamin D3 receptor)
A3T (p.Ala3Thr) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD rs1416964833
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.33
- MetaLR 0.40
- MetaSVM -0.46
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available