E44Q (p.Glu44Gln) variant of MFN2 (Mitofusin-2)
E44Q (p.Glu44Gln) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar 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 0.61 / 1. The record also includes population frequency data and structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- cosmic curated COSV52423
- gnomAD rs1638568886
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.53
- CADD 22.30
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available