T185I (p.Thr185Ile) variant of GABRB3 (P28472)
T185I (p.Thr185Ile) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
T185I (p.Thr185Ile) variant details
- p.Thr185Ile
- rs1131691481
- ClinGen CA391464224
- cosmic curated COSV10460
- ClinVar RCV000494267
- Pathogenic
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.99
- MetaLR 0.70
- MetaSVM 0.59
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available