D1633N (p.Asp1633Asn) variant of CACNA1A (O00555)
D1633N (p.Asp1633Asn) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spinocerebellar ataxia type 6; Episodic ataxia type 2; Developmental and epilept. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D1633N (p.Asp1633Asn) variant details
- p.Asp1633Asn
- rs1555740805
- ClinGen CA404337971
- ClinVar RCV000518921
- ClinVar RCV000624265
- Pathogenic/Likely pathogenic
- Spinocerebellar ataxia type 6; Episodic ataxia type 2; Developmental and epilept
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.00
- EVE 0.76
- MutPred 0.92
- ClinVar: Pathogenic/Likely pathogenic (Spinocerebellar ataxia type 6; Episodic ataxia type 2; Developme)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent… (PMID 33798445)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)