M1R (p.Met1Arg) variant of VDR (Vitamin D3 receptor)
M1R (p.Met1Arg) 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 Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs2228570
- ClinGen CA236485203
- ClinVar RCV004554972
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- 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 (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available