S53S (p.Ser53Ser) variant of MFN2 (Mitofusin-2)
S53S (p.Ser53Ser) in MFN2 (Mitofusin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S53S (p.Ser53Ser) variant details
- p.Ser53Ser
- rs61733200
- gnomAD 1-11989327-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0857
- CADD 0.72
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)