K53N (p.Lys53Asn) variant of KCNA1 (Q09470)
K53N (p.Lys53Asn) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K53N (p.Lys53Asn) variant details
- p.Lys53Asn
- rs370288610
- ClinGen CA6399351
- ClinVar RCV002024483
- ClinVar RCV005654949
- Uncertain significance
- Inborn genetic diseases; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.32
- CADD 25.80
- PolyPhen-2 0.65
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.2e-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)