Q32K (p.Gln32Lys) variant of GABRA1 (P14867)
Q32K (p.Gln32Lys) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Idiopathic generalized epilepsy; Epilepsy, idiopathic g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q32K (p.Gln32Lys) variant details
- p.Gln32Lys
- rs769743354
- ClinGen CA3544342
- ClinVar RCV000645389
- ClinVar RCV002317400
- Uncertain significance
- Inborn genetic diseases; Idiopathic generalized epilepsy; Epilepsy, idiopathic g
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.28
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; Idiopathic generalized epilepsy; Epilep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- 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)