D203N (p.Asp203Asn) variant of PLP1 (Myelin proteolipid protein)
D203N (p.Asp203Asn) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Pelizaeus-Merzbacher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
D203N (p.Asp203Asn) variant details
- p.Asp203Asn
- rs132630284
- ClinGen CA10588735
- ClinVar RCV000255035
- ClinVar RCV003985083
- Pathogenic
- not provided; Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- EVE 0.42
- MutPred 0.98
- ClinVar: Pathogenic (not provided; Pelizaeus-Merzbacher disease)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)
- Cited in: A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher… (PMID 10425042)