M263T (p.Met263Thr) variant of GABRA1 (P14867)
M263T (p.Met263Thr) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy, childhood absence 4; Idiopathic generalized epilepsy; Epilepsy, idiopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
M263T (p.Met263Thr) variant details
- p.Met263Thr
- rs796052491
- ClinGen CA314670
- ClinVar RCV003060019
- Ensembl rs796052491
- Likely pathogenic
- Epilepsy, childhood absence 4; Idiopathic generalized epilepsy; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.99
- MetaLR 0.69
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.70
- ClinVar: Likely pathogenic (Epilepsy, childhood absence 4; Idiopathic generalized epilepsy;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available