I65S (p.Ile65Ser) variant of PLP1 (Myelin proteolipid protein)
I65S (p.Ile65Ser) 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 not provided; Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I65S (p.Ile65Ser) variant details
- p.Ile65Ser
- rs1191076247
- ClinGen CA414102399
- ClinVar RCV001797040
- ClinVar RCV003883703
- Uncertain significance
- not provided; Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary spastic paraplegia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)