R7G (p.Arg7Gly) variant of MFN2 (Mitofusin-2)
R7G (p.Arg7Gly) in MFN2 (Mitofusin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- Ensembl rs1557515779
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.55
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available