Y14C (p.Tyr14Cys) variant of GABRG2 (P18507)
Y14C (p.Tyr14Cys) 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; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Y14C (p.Tyr14Cys) variant details
- p.Tyr14Cys
- rs61750979
- ClinGen CA3544642
- ClinVar RCV000794979
- ClinVar RCV000998484
- Conflicting interpretations
- Inborn genetic diseases; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSE
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 19.10
- PolyPhen-2 0.08
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Febrile seizures, familial, 8; EPILEPSY)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.021)
- 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)