G270S (p.Gly270Ser) variant of ATP1A3 (P13637)
G270S (p.Gly270Ser) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s. The record also includes published literature and structural context.
G270S (p.Gly270Ser) variant details
- p.Gly270Ser
- rs2514075769
- ClinGen CA406053049
- ClinVar RCV003389278
- Likely benign
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s
- Missense
- ClinVar: Likely benign (Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineura)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)