L76P (p.Leu76Pro) variant of MFN2 (Mitofusin-2)
L76P (p.Leu76Pro) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L76P (p.Leu76Pro) variant details
- p.Leu76Pro
- rs28940293
- ClinGen CA252148
- ClinVar RCV000002358
- ClinVar RCV000200837
- Pathogenic
- Charcot-Marie-Tooth disease type 2; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.72
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.27
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; not provided; Inborn genetic)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. (PMID 10732809)
- Cited in: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. (PMID 15064763)