I157T (p.Ile157Thr) variant of SPTBN2 (O15020)
I157T (p.Ile157Thr) 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 published literature.
I157T (p.Ile157Thr) variant details
- p.Ile157Thr
- rs875989881
- ClinGen CA10576252
- ClinVar RCV000211499
- Ensembl rs875989881
- Likely pathogenic
- Spinocerebellar ataxia type 5
- Missense
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)