V9M (p.Val9Met) variant of KCNA1 (Q09470)
V9M (p.Val9Met) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V9M (p.Val9Met) variant details
- p.Val9Met
- rs1194152428
- ClinGen CA383453636
- ClinVar RCV003276676
- ClinVar RCV005102613
- Uncertain significance
- Inborn genetic diseases; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.17
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)