A76P (p.Ala76Pro) variant of PLP1 (Myelin proteolipid protein)
A76P (p.Ala76Pro) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pelizaeus-Merzbacher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A76P (p.Ala76Pro) variant details
- p.Ala76Pro
- rs2147764222
- ClinGen CA414102473
- ClinVar RCV002272930
- Ensembl rs2147764222
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PMID 15712223)
- Cited in: PLP1-Related Disorders. (PMID 20301361)