A22A (p.Ala22Ala) variant of MFN2 (Mitofusin-2)
A22A (p.Ala22Ala) in MFN2 (Mitofusin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs746838667
- gnomAD 1-11989234-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 11.40
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available