Q51H (p.Gln51His) variant of MFN2 (Mitofusin-2)
Q51H (p.Gln51His) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory neuropathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
Q51H (p.Gln51His) variant details
- p.Gln51His
- rs886045219
- ClinGen CA10607971
- ClinVar RCV000346922
- ClinVar RCV000391632
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory neuropathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.13
- MetaLR 0.87
- MetaSVM 0.44
- PolyPhen-2 0.00
- SIFT 0.17
- EVE 0.13
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)