R363W (p.Arg363Trp) variant of GABRG2 (P18507)
R363W (p.Arg363Trp) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R363W (p.Arg363Trp) variant details
- p.Arg363Trp
- rs374512652
- ClinGen CA314741
- cosmic curated COSV62718
- ClinVar RCV000187534
- Uncertain significance
- Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 26.20
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBI)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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)