A6T (p.Ala6Thr) variant of VDR (Vitamin D3 receptor)
A6T (p.Ala6Thr) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- TOPMed rs1201137636
- gnomAD rs1201137636
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- MetaLR 0.65
- MetaSVM -0.00
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available