W26G (p.Trp26Gly) variant of GABRG2 (P18507)
W26G (p.Trp26Gly) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
W26G (p.Trp26Gly) variant details
- p.Trp26Gly
- rs1293775808
- ClinGen CA362181862
- ClinVar RCV002928829
- gnomAD rs1293775808
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available