S76I (p.Ser76Ile) variant of PMP22 (Peripheral myelin protein 22)
S76I (p.Ser76Ile) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dejerine-Sottas disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
S76I (p.Ser76Ile) variant details
- p.Ser76Ile
- rs1597608049
- ClinGen CA398268149
- ClinVar RCV000790175
- Ensembl rs1597608049
- Uncertain significance
- Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 0.88
- MetaLR 0.84
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.50
- ClinVar: Uncertain significance (Dejerine-Sottas disease)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. (PMID 9055797)
- Cited in: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. (PMID 10211478)