K38M (p.Lys38Met) variant of MFN2 (Mitofusin-2)
K38M (p.Lys38Met) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
K38M (p.Lys38Met) variant details
- p.Lys38Met
- rs1157741525
- ClinGen CA338459704
- ClinVar RCV002305177
- TOPMed rs1157741525
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.77
- CADD 27.60
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance (in CMT2A2B)
- UniProt: Uncertain significance (in CMT2A2B)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)