R7Q (p.Arg7Gln) variant of MFN2 (Mitofusin-2)
R7Q (p.Arg7Gln) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- NCI-TCGA Cosmic COSV5242
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99337
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.52
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available