S79P (p.Ser79Pro) variant of PMP22 (Peripheral myelin protein 22)
S79P (p.Ser79Pro) 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 0.80 / 1. The record also includes published literature and structural context.
S79P (p.Ser79Pro) variant details
- p.Ser79Pro
- rs863225027
- ClinGen CA398268103
- ClinVar RCV000790146
- ClinVar RCV003581730
- Pathogenic
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.97
- MetaLR 0.79
- MetaSVM 0.69
- PolyPhen-2 0.97
- SIFT 0.02
- EVE 0.71
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene. (PMID 9452053)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)