A14S (p.Ala14Ser) variant of KCNA1 (Q09470)
A14S (p.Ala14Ser) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- rs752293178
- ClinGen CA6399331
- ClinVar RCV003628595
- ExAC rs752293178
- Uncertain significance
- Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.19
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)