I321T (p.Ile321Thr) variant of GABRG2 (P18507)
I321T (p.Ile321Thr) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.50 / 1. The record also includes structural context.
I321T (p.Ile321Thr) variant details
- p.Ile321Thr
- rs1765175867
- ClinGen CA362182378
- ClinVar RCV001205046
- Ensembl rs1765175867
- Likely pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.90
- MetaLR 0.59
- MetaSVM -0.07
- PolyPhen-2 0.98
- SIFT 0.08
- EVE 0.17
- ClinVar: Likely pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available