N8K (p.Asn8Lys) variant of KCNA1 (Q09470)
N8K (p.Asn8Lys) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- rs1477627699
- ClinGen CA383453633
- ClinVar RCV001865061
- TOPMed rs1477627699
- Uncertain significance
- Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.25
- CADD 15.50
- PolyPhen-2 0.08
- SIFT 0.30
- ClinVar: Uncertain significance (Episodic ataxia type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)