E277D (p.Glu277Asp) variant of GABRA1 (P14867)
E277D (p.Glu277Asp) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
E277D (p.Glu277Asp) variant details
- p.Glu277Asp
- rs764666718
- ClinGen CA362180000
- ClinVar RCV001887761
- ExAC rs764666718
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.95
- MetaLR 0.51
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.36
- EVE 0.39
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Benign
- UniProt: Benign
- Structural context available