Q20H (p.Gln20His) variant of KCNA1 (Q09470)
Q20H (p.Gln20His) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q20H (p.Gln20His) variant details
- p.Gln20His
- rs201504073
- ClinGen CA6399336
- ClinVar RCV000517963
- ClinVar RCV000639376
- Conflicting interpretations
- not provided; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.38
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (not provided; Episodic ataxia type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.0004)
- 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)