N275S (p.Asn275Ser) variant of GABRA1 (P14867)
N275S (p.Asn275Ser) 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 0.72 / 1. The record also includes structural context.
N275S (p.Asn275Ser) variant details
- p.Asn275Ser
- rs1755063824
- ClinGen CA362179983
- ClinVar RCV001207242
- ClinVar RCV003331079
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.65
- MetaLR 0.70
- MetaSVM 0.53
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available