D302N (p.Asp302Asn) variant of CACNA1A (O00555)
D302N (p.Asp302Asn) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Spinocer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
D302N (p.Asp302Asn) variant details
- p.Asp302Asn
- rs863224852
- ClinGen CA278969
- cosmic curated COSV10592
- ClinVar RCV000197857
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Spinocer
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)