M234V (p.Met234Val) variant of MFN2 (Mitofusin-2)
M234V (p.Met234Val) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
M234V (p.Met234Val) variant details
- p.Met234Val
- rs2100831955
- ClinGen CA338438564
- ClinVar RCV001362083
- ClinVar RCV006437047
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.78
- AlphaMissense 0.92
- MetaLR 0.84
- MetaSVM 0.65
- CADD 23.60
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)