T43I (p.Thr43Ile) variant of PLP1 (Myelin proteolipid protein)
T43I (p.Thr43Ile) 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 0.86 / 1. The record also includes published literature and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- rs132630289
- ClinGen CA255704
- ClinVar RCV000011835
- UniProt VAR 004547
- Pathogenic
- in HLD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather… (PMID 7573159)
- Cited in: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)