G2D (p.Gly2Asp) variant of PLP1 (Myelin proteolipid protein)
G2D (p.Gly2Asp) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- rs2522300700
- ClinGen CA414101722
- ClinVar RCV003621801
- NCI-TCGA TCGA novel
- Uncertain significance
- Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)