L46M (p.Leu46Met) variant of KCNA1 (Q09470)
L46M (p.Leu46Met) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L46M (p.Leu46Met) variant details
- p.Leu46Met
- rs149959487
- ClinGen CA6399349
- ClinVar RCV000792773
- ClinVar RCV001289073
- Conflicting interpretations
- Inborn genetic diseases; not specified; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.35
- CADD 22.00
- PolyPhen-2 0.25
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Episodic ataxia type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- 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)