S83S (p.Ser83Ser) variant of MFN2 (Mitofusin-2)
S83S (p.Ser83Ser) in MFN2 (Mitofusin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S83S (p.Ser83Ser) variant details
- p.Ser83Ser
- rs376317255
- gnomAD 1-11992628-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 12.90
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available