T317N (p.Thr317Asn) variant of GABRG2 (P18507)
T317N (p.Thr317Asn) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
T317N (p.Thr317Asn) variant details
- p.Thr317Asn
- rs1765173859
- ClinGen CA362182354
- ClinVar RCV001824554
- Ensembl rs1765173859
- Likely pathogenic
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.95
- MetaLR 0.76
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (Familial sleep-related hypermotor epilepsy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)