D173E (p.Asp173Glu) variant of CACNA1A (O00555)
D173E (p.Asp173Glu) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia type 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
D173E (p.Asp173Glu) variant details
- p.Asp173Glu
- rs2144936093
- ClinGen CA404967443
- ClinVar RCV001542500
- Ensembl rs2144936093
- Likely pathogenic
- Spinocerebellar ataxia type 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 6)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)