Q20R (p.Gln20Arg) variant of KCNA1 (Q09470)
Q20R (p.Gln20Arg) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- rs1243401360
- ClinGen CA383453705
- ClinVar RCV003066447
- ClinVar RCV005655163
- Uncertain significance
- Inborn genetic diseases; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- CADD 17.30
- PolyPhen-2 0.13
- SIFT 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases; 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)