G36D (p.Gly36Asp) variant of GABRG2 (P18507)
G36D (p.Gly36Asp) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.80 / 1. The record also includes population frequency data and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- rs1266267390
- ClinGen CA362181922
- cosmic curated COSV62718
- ClinVar RCV002043954
- Uncertain significance
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 33.00
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (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 9e-07)
- Structural context available