M1T (p.Met1Thr) variant of VDR (Vitamin D3 receptor)
M1T (p.Met1Thr) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2228570
- ClinGen CA6534113
- ClinVar RCV000601968
- ClinVar RCV000988816
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- AlphaMissense 0.23
- MetaLR 0.00
- MetaSVM -0.93
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available