K84E (p.Lys84Glu) variant of MFN2 (Mitofusin-2)
K84E (p.Lys84Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
K84E (p.Lys84Glu) variant details
- p.Lys84Glu
- rs1569816088
- ClinGen CA338461978
- ClinVar RCV000790037
- Ensembl rs1569816088
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.58
- MetaLR 0.89
- MetaSVM 0.93
- PolyPhen-2 0.83
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)