I72L (p.Ile72Leu) variant of PLP1 (Myelin proteolipid protein)
I72L (p.Ile72Leu) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
I72L (p.Ile72Leu) variant details
- p.Ile72Leu
- rs1237329577
- ClinVar RCV004595366
- Uncertain significance
- Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.85
- MetaLR 0.98
- MetaSVM 1.12
- PolyPhen-2 0.97
- SIFT 0.12
- EVE 0.40
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)