T311A (p.Thr311Ala) variant of GABRG2 (P18507)
T311A (p.Thr311Ala) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T311A (p.Thr311Ala) variant details
- p.Thr311Ala
- rs2113632510
- ClinGen CA362182313
- ClinVar RCV001577862
- ClinVar RCV003771756
- Likely pathogenic
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available