S79C (p.Ser79Cys) variant of PMP22 (Peripheral myelin protein 22)
S79C (p.Ser79Cys) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
S79C (p.Ser79Cys) variant details
- p.Ser79Cys
- rs104894618
- ClinGen CA254385
- ClinVar RCV000008941
- ClinVar RCV002512923
- Pathogenic
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.73
- MetaLR 0.85
- MetaSVM 0.83
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.61
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in CMT1A)
- UniProt: Pathogenic (in CMT1A)
- Structural context available
- Cited in: Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. (PMID 8252046)
- Cited in: Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. (PMID 8510709)