I47T (p.Ile47Thr) variant of PLP1 (Myelin proteolipid protein)
I47T (p.Ile47Thr) 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; Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
I47T (p.Ile47Thr) variant details
- p.Ile47Thr
- rs1060500909
- ClinGen CA16616406
- ClinVar RCV000463096
- ClinVar RCV000681649
- Likely pathogenic
- Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.70
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.28
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)