D32Y (p.Asp32Tyr) variant of KCNA1 (Q09470)
D32Y (p.Asp32Tyr) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- rs1947351128
- ClinGen CA383453784
- ClinVar RCV001757641
- ClinVar RCV004699463
- Uncertain significance
- not specified; not provided; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.52
- CADD 24.60
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)