K61E (p.Lys61Glu) variant of SPTBN2 (O15020)
K61E (p.Lys61Glu) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebellar ataxia; not provided.
K61E (p.Lys61Glu) variant details
- p.Lys61Glu
- rs797046006
- ClinGen CA205211
- ClinVar RCV000192407
- ClinVar RCV000494630
- Likely pathogenic
- Cerebellar ataxia; not provided
- Missense
- ClinVar: Likely pathogenic (Cerebellar ataxia; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic