D123N (p.Asp123Asn) variant of CACNA1A (O00555)
D123N (p.Asp123Asn) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CACNA1A-related disorder; not provided; Episodic ataxia type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D123N (p.Asp123Asn) variant details
- p.Asp123Asn
- rs753467037
- ClinGen CA9241055
- ClinVar RCV001889698
- ClinVar RCV003985529
- Conflicting interpretations
- CACNA1A-related disorder; not provided; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.94
- CADD 22.80
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (CACNA1A-related disorder; not provided; Episodic ataxia type 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)