S10C (p.Ser10Cys) variant of MFN2 (Mitofusin-2)
S10C (p.Ser10Cys) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. 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.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- rs757982521
- ClinGen CA598723
- ClinVar RCV001898841
- ExAC rs757982521
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.43
- CADD 23.10
- PolyPhen-2 0.21
- SIFT 0.02
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)