R364W (p.Arg364Trp) variant of MFN2 (Mitofusin-2)
R364W (p.Arg364Trp) 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 2; not provided; Charcot-Marie-Tooth disease ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R364W (p.Arg364Trp) variant details
- p.Arg364Trp
- rs119103265
- ClinGen CA115469
- cosmic curated COSV10957
- ClinVar RCV000002367
- Pathogenic
- Charcot-Marie-Tooth disease type 2; not provided; Charcot-Marie-Tooth disease ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.46
- MetaLR 0.93
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; not provided; Charcot-Marie-)
- EBI: Pathogenic (in HMSN6A and CMT2A2A)
- UniProt: Pathogenic (in HMSN6A and CMT2A2A)
- Structural context available
- Cited in: Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. (PMID 16437557)
- Cited in: Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. (PMID 16835246)