R364P (p.Arg364Pro) variant of MFN2 (Mitofusin-2)
R364P (p.Arg364Pro) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R364P (p.Arg364Pro) variant details
- p.Arg364Pro
- rs879254011
- ClinGen CA338442904
- ClinVar RCV000693474
- ClinVar RCV000790019
- Pathogenic
- Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.46
- MetaLR 0.93
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.47
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth diseas)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (PMID 20008656)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)