M39T (p.Met39Thr) variant of VDR (Vitamin D3 receptor)
M39T (p.Met39Thr) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
M39T (p.Met39Thr) variant details
- p.Met39Thr
- gnomAD rs1463920811
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.94
- MetaLR 0.88
- MetaSVM 0.96
- CADD 25.90
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available