S72P (p.Ser72Pro) variant of PMP22 (Peripheral myelin protein 22)
S72P (p.Ser72Pro) 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 0.89 / 1. The record also includes published literature and structural context.
S72P (p.Ser72Pro) variant details
- p.Ser72Pro
- rs1597608086
- ClinGen CA398268237
- ClinVar RCV000789526
- ClinVar RCV002535807
- Pathogenic
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.80
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. (PMID 10211478)