H361Q (p.His361Gln) variant of MFN2 (Mitofusin-2)
H361Q (p.His361Gln) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
H361Q (p.His361Gln) variant details
- p.His361Gln
- rs1639197832
- ClinGen CA338442865
- ClinVar RCV001071615
- ClinVar RCV003444775
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease)
- EBI: Likely pathogenic (in HMSN6A)
- UniProt: Likely pathogenic (in HMSN6A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)