H37P (p.His37Pro) variant of PLP1 (Myelin proteolipid protein)
H37P (p.His37Pro) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Pelizaeus-Merzbacher disease. The record also includes published literature and structural context.
H37P (p.His37Pro) variant details
- p.His37Pro
- rs2522301501
- ClinGen CA414102095
- ClinVar RCV002437310
- ClinVar RCV004595664
- Conflicting interpretations
- Inborn genetic diseases; Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)