Y331C (p.Tyr331Cys) variant of GABRG2 (P18507)
Y331C (p.Tyr331Cys) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILI. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y331C (p.Tyr331Cys) variant details
- p.Tyr331Cys
- rs1390117240
- ClinGen CA362182438
- ClinVar RCV000998485
- ClinVar RCV001858879
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILI
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 28.60
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; EPILEPSY, CHILDHOOD ABSEN)
- 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)