Y82C (p.Tyr82Cys) variant of PLP1 (Myelin proteolipid protein)
Y82C (p.Tyr82Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
Y82C (p.Tyr82Cys) variant details
- p.Tyr82Cys
- rs2147764248
- ClinGen CA414102515
- ClinVar RCV001848567
- Ensembl rs2147764248
- Uncertain significance
- Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.68
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Hereditary spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)