R414C (p.Arg414Cys) variant of SPTBN2 (O15020)
R414C (p.Arg414Cys) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive spinocerebellar ataxia 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
R414C (p.Arg414Cys) variant details
- p.Arg414Cys
- rs1318256630
- ClinGen CA381481539
- cosmic curated COSV59461
- ClinVar RCV001352896
- Pathogenic
- Autosomal recessive spinocerebellar ataxia 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.50
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive spinocerebellar ataxia 14)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New… (PMID 29196973)