H18P (p.His18Pro) variant of KCNA1 (Q09470)
H18P (p.His18Pro) 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; not specified; Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H18P (p.His18Pro) variant details
- p.His18Pro
- rs367921276
- ClinGen CA6399335
- ClinVar RCV000415980
- ClinVar RCV000560254
- Uncertain significance
- Inborn genetic diseases; not specified; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.33
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)