Q74R (p.Gln74Arg) variant of MFN2 (Mitofusin-2)
Q74R (p.Gln74Arg) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
Q74R (p.Gln74Arg) variant details
- p.Gln74Arg
- rs1569815882
- ClinGen CA338461803
- ClinVar RCV000789412
- ClinVar RCV001091325
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.34
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 0.69
- SIFT 0.58
- EVE 0.32
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)