V93M (p.Val93Met) variant of MTHFR (P42898)
V93M (p.Val93Met) in MTHFR (P42898) 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 0.76 / 1. The record also includes population frequency data and structural context.
V93M (p.Val93Met) variant details
- p.Val93Met
- rs1239688333
- ClinGen CA338422634
- ClinVar RCV003126347
- TOPMed rs1239688333
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.76
- CADD 23.90
- PolyPhen-2 0.81
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available