T90M (p.Thr90Met) variant of GABRG2 (P18507)
T90M (p.Thr90Met) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T90M (p.Thr90Met) variant details
- p.Thr90Met
- rs1057520498
- ClinGen CA16605318
- NCI-TCGA Cosmic COSV6271
- cosmic curated COSV62719
- Pathogenic
- not provided; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEP
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)