N75K (p.Asn75Lys) variant of CACNA1A (O00555)
N75K (p.Asn75Lys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
N75K (p.Asn75Lys) variant details
- p.Asn75Lys
- rs1982991598
- ClinGen CA404970934
- ClinVar RCV001235855
- Ensembl rs1982991598
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.0825
- CADD 4.27
- SIFT 0.19
- ClinVar: Uncertain significance (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)