E63Q (p.Glu63Gln) variant of KCNMA1 (Q12791)
E63Q (p.Glu63Gln) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, develop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
E63Q (p.Glu63Gln) variant details
- p.Glu63Gln
- rs749265202
- ClinGen CA5568786
- ClinVar RCV000803660
- ClinVar RCV004629335
- Conflicting interpretations
- Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, develop
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.05
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.65
- ClinVar: Conflicting classifications of pathogenicity (Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)