G10R (p.Gly10Arg) variant of GABRG2 (P18507)
G10R (p.Gly10Arg) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs1262705178
- ClinGen CA362181759
- ClinVar RCV001493850
- ClinVar RCV005841814
- Conflicting interpretations
- Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBI)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-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)