R562Q (p.Arg562Gln) variant of SPAST (Spastin)
R562Q (p.Arg562Gln) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SPAST-related disorder; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R562Q (p.Arg562Gln) variant details
- p.Arg562Gln
- rs863224923
- ClinGen CA278930
- cosmic curated COSV10453
- ClinVar RCV000195806
- Pathogenic/Likely pathogenic
- SPAST-related disorder; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.89
- CADD 29.10
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (SPAST-related disorder; not provided; Hereditary spastic paraple)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. (PMID 11843700)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)