E1211A (p.Glu1211Ala) variant of FAT2 (Protocadherin Fat 2)
E1211A (p.Glu1211Ala) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia 45.
E1211A (p.Glu1211Ala) variant details
- p.Glu1211Ala
- rs2479961112
- ClinGen CA361848804
- ClinVar RCV003989958
- Likely pathogenic
- Spinocerebellar ataxia 45
- Missense
- ClinVar: Likely pathogenic (Spinocerebellar ataxia 45)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic