Y24H (p.Tyr24His) variant of KCNA1 (Q09470)
Y24H (p.Tyr24His) 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.
Y24H (p.Tyr24His) variant details
- p.Tyr24His
- rs1224258529
- ClinGen CA383453730
- ClinVar RCV001221665
- ClinVar RCV004032424
- Uncertain significance
- Inborn genetic diseases; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.24
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Inborn genetic diseases; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00052)
- 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)