N275K (p.Asn275Lys) variant of GABRA1 (P14867)
N275K (p.Asn275Lys) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
N275K (p.Asn275Lys) variant details
- p.Asn275Lys
- rs1755063970
- ClinGen CA362179985
- NCI-TCGA Cosmic COSV5009
- cosmic curated COSV50099
- Pathogenic
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 1.00
- MetaLR 0.69
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.11
- EVE 0.62
- ClinVar: Pathogenic (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available