G80A (p.Gly80Ala) variant of MFN2 (Mitofusin-2)
G80A (p.Gly80Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G80A (p.Gly80Ala) variant details
- p.Gly80Ala
- rs139827903
- ClinGen CA338461909
- ClinVar RCV001345572
- 1000Genomes rs139827903
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.34
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)