R1482W (p.Arg1482Trp) variant of SPTBN2 (O15020)
R1482W (p.Arg1482Trp) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive spinocerebellar ataxia 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
R1482W (p.Arg1482Trp) variant details
- p.Arg1482Trp
- rs373270554
- ClinGen CA6128583
- ClinVar RCV001291096
- ESP rs373270554
- Likely pathogenic
- Autosomal recessive spinocerebellar ataxia 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.10
- CADD 26.70
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive spinocerebellar ataxia 14)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)