K53Q (p.Lys53Gln) variant of PLP1 (Myelin proteolipid protein)
K53Q (p.Lys53Gln) 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 0.67 / 1. The record also includes published literature and structural context.
K53Q (p.Lys53Gln) variant details
- p.Lys53Gln
- rs2074490089
- ClinGen CA414102264
- ClinVar RCV001207491
- Ensembl rs2074490089
- Uncertain significance
- Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.24
- MetaLR 0.96
- MetaSVM 1.18
- PolyPhen-2 0.98
- SIFT 0.07
- EVE 0.19
- 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)