L76R (p.Leu76Arg) variant of MFN2 (Mitofusin-2)
L76R (p.Leu76Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L76R (p.Leu76Arg) variant details
- p.Leu76Arg
- rs28940293
- ClinGen CA598778
- ClinVar RCV000658491
- ClinVar RCV001855377
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.58
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)