I65N (p.Ile65Asn) variant of PLP1 (Myelin proteolipid protein)
I65N (p.Ile65Asn) 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 0.86 / 1. The record also includes published literature and structural context.
I65N (p.Ile65Asn) variant details
- p.Ile65Asn
- rs1191076247
- ClinGen CA414102397
- ClinVar RCV001924444
- gnomAD rs1191076247
- Uncertain significance
- Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.53
- 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)