N70S (p.Asn70Ser) variant of CACNA1A (O00555)
N70S (p.Asn70Ser) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Inborn g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N70S (p.Asn70Ser) variant details
- p.Asn70Ser
- rs749526415
- ClinGen CA9241086
- ClinVar RCV001901839
- ClinVar RCV002422915
- Conflicting interpretations
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Inborn g
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -0.97
- CADD 20.40
- PolyPhen-2 0.65
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)