S83C (p.Ser83Cys) variant of MFN2 (Mitofusin-2)
S83C (p.Ser83Cys) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S83C (p.Ser83Cys) variant details
- p.Ser83Cys
- rs372451582
- ClinGen CA18038726
- ClinVar RCV001221318
- ClinVar RCV002269347
- Uncertain significance
- Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.50
- CADD 22.60
- PolyPhen-2 0.34
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)