D255Y (p.Asp255Tyr) variant of SPTBN2 (O15020)
D255Y (p.Asp255Tyr) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia type 5.
D255Y (p.Asp255Tyr) variant details
- p.Asp255Tyr
- cosmic curated COSV10811
- Likely pathogenic
- Spinocerebellar ataxia type 5
- Missense
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 5)
- UniProt: Likely pathogenic