A15S (p.Ala15Ser) variant of KCNA1 (Q09470)
A15S (p.Ala15Ser) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs777276806
- ClinGen CA6399333
- ClinVar RCV001235151
- ClinVar RCV003263870
- Uncertain significance
- Inborn genetic diseases; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.24
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- 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)