D10E (p.Asp10Glu) variant of KCNA1 (Q09470)
D10E (p.Asp10Glu) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- rs1471834737
- ClinGen CA383453646
- ClinVar RCV000795415
- gnomAD rs1471834737
- Uncertain significance
- not provided; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.24
- CADD 16.10
- PolyPhen-2 0.06
- SIFT 0.35
- ClinVar: Uncertain significance (not provided; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)