T116K (p.Thr116Lys) variant of PLP1 (Myelin proteolipid protein)
T116K (p.Thr116Lys) 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 0.74 / 1. The record also includes published literature and structural context.
T116K (p.Thr116Lys) variant details
- p.Thr116Lys
- rs749278720
- ClinVar RCV004595766
- UniProt VAR 015023
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.18
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.81
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with… (PMID 8909455)
- Cited in: PLP1-Related Disorders. (PMID 20301361)