K79R (p.Lys79Arg) variant of MFN2 (Mitofusin-2)
K79R (p.Lys79Arg) 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; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K79R (p.Lys79Arg) variant details
- p.Lys79Arg
- rs1262941514
- ClinGen CA338461885
- cosmic curated COSV52424
- ClinVar RCV000517521
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.34
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; Inborn genetic diseases; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)