M4V (p.Met4Val) variant of VDR (Vitamin D3 receptor)
M4V (p.Met4Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
M4V (p.Met4Val) variant details
- p.Met4Val
- rs537469733
- ClinGen CA6534109
- cosmic curated COSV57468
- ClinVar RCV002588198
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.18
- MetaLR 0.62
- MetaSVM -0.24
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.02)
- Structural context available