G74R (p.Gly74Arg) variant of PLP1 (Myelin proteolipid protein)
G74R (p.Gly74Arg) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HLD1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- rs132630285
- ClinGen CA255696
- ClinVar RCV000011831
- UniProt VAR 004548
- Pathogenic
- in HLD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- 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: Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.… (PMID 11093273)