R351P (p.Arg351Pro) variant of SPTBN2 (O15020)
R351P (p.Arg351Pro) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia type 5. The record also includes population frequency data, published literature, and structural context.
R351P (p.Arg351Pro) variant details
- p.Arg351Pro
- rs541484241
- ClinGen CA381482215
- ClinVar RCV000995650
- 1000Genomes rs541484241
- Likely pathogenic
- Spinocerebellar ataxia type 5
- Missense
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)