G80V (p.Gly80Val) variant of MFN2 (Mitofusin-2)
G80V (p.Gly80Val) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G80V (p.Gly80Val) variant details
- p.Gly80Val
- rs139827903
- ClinGen CA598781
- ClinVar RCV000789374
- ClinVar RCV001873221
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.83
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)