R259H (p.Arg259His) variant of MFN2 (Mitofusin-2)
R259H (p.Arg259His) 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; Charcot-Marie-Tooth disease type 2A2; Inborn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R259H (p.Arg259His) variant details
- p.Arg259His
- rs755065651
- ClinGen CA598918
- cosmic curated COSV52422
- ClinVar RCV000700272
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. (PMID 24627108)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)