L92P (p.Leu92Pro) variant of MFN2 (Mitofusin-2)
L92P (p.Leu92Pro) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie-Tooth disease t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
L92P (p.Leu92Pro) variant details
- p.Leu92Pro
- rs1569816285
- ClinGen CA338462142
- ClinVar RCV000790024
- ClinVar RCV001064640
- Pathogenic
- Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie-Tooth disease t
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Neuropathy, hereditary motor and sensory, type 6A; Charcot-Marie)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Structural context available
- Cited in: Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. (PMID 16835246)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)