N167K (p.Asn167Lys) variant of GABRG2 (P18507)
N167K (p.Asn167Lys) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
N167K (p.Asn167Lys) variant details
- p.Asn167Lys
- rs1581351046
- ClinGen CA362184366
- cosmic curated COSV62717
- ClinVar RCV000806748
- Pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available