A54R (p.Ala54Arg) variant of MFN2 (Mitofusin-2)
A54R (p.Ala54Arg) in MFN2 (Mitofusin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A54R (p.Ala54Arg) variant details
- p.Ala54Arg
- rs1557516104
- gnomAD 1-11989325-A-AGTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available