S53R (p.Ser53Arg) variant of MFN2 (Mitofusin-2)
S53R (p.Ser53Arg) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- rs61733200
- ClinGen CA338460073
- ClinVar RCV001174310
- ClinVar RCV005641967
- Uncertain significance
- not provided; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.63
- CADD 8.47
- PolyPhen-2 0.78
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Charcot-Marie-Tooth disease)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)