A12V (p.Ala12Val) variant of KCNA1 (Q09470)
A12V (p.Ala12Val) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs2137672654
- ClinGen CA383453659
- ClinVar RCV001927719
- Ensembl rs2137672654
- Uncertain significance
- Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)