R782P (p.Arg782Pro) variant of CACNA1A (O00555)
R782P (p.Arg782Pro) 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 0.74 / 1. The record also includes published literature and structural context.
R782P (p.Arg782Pro) variant details
- p.Arg782Pro
- rs1233611505
- ClinGen CA404343656
- ClinVar RCV001849210
- gnomAD rs1233611505
- Likely pathogenic
- Spinocerebellar ataxia type 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- AlphaMissense 0.35
- MetaLR 0.86
- MetaSVM 0.80
- SIFT 0.00
- MutPred 0.34
- 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)