T41P (p.Thr41Pro) variant of PLP1 (Myelin proteolipid protein)
T41P (p.Thr41Pro) 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 0.55 / 1. The record also includes published literature and structural context.
T41P (p.Thr41Pro) variant details
- p.Thr41Pro
- rs1005010589
- ClinVar RCV004595784
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.10
- MetaLR 0.84
- MetaSVM 0.66
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.13
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)