G47A (p.Gly47Ala) variant of MFN2 (Mitofusin-2)
G47A (p.Gly47Ala) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- rs1263406133
- ClinGen CA338459892
- cosmic curated COSV99030
- ClinVar RCV002008966
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.37
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.75
- 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 9.9e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)