R503Q (p.Arg503Gln) variant of SPAST (Spastin)
R503Q (p.Arg503Gln) in SPAST (Spastin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R503Q (p.Arg503Gln) variant details
- p.Arg503Gln
- rs1553319087
- ClinGen CA346502866
- ClinVar RCV002814347
- Conflicting interpretations
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.88
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.96
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 4)
- UniProt: Conflicting interpretations (in SPG4)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)