S72L (p.Ser72Leu) variant of PMP22 (Peripheral myelin protein 22)
S72L (p.Ser72Leu) 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 PMP22-related disorder; Inborn genetic diseases; Charcot-Marie-Tooth disease, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
S72L (p.Ser72Leu) variant details
- p.Ser72Leu
- rs104894621
- ClinGen CA119620
- ClinVar RCV000008948
- ClinVar RCV000456500
- Pathogenic
- PMP22-related disorder; Inborn genetic diseases; Charcot-Marie-Tooth disease, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (PMP22-related disorder; Inborn genetic diseases; Charcot-Marie-T)
- EBI: Pathogenic (in DSS and CMT1A)
- UniProt: Pathogenic (in DSS and CMT1A)
- Structural context available
- Cited in: Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. (PMID 11140841)
- Cited in: Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of… (PMID 11438991)