L267F (p.Leu267Phe) variant of GABRA1 (P14867)
L267F (p.Leu267Phe) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
L267F (p.Leu267Phe) variant details
- p.Leu267Phe
- rs796052492
- ClinGen CA362179926
- cosmic curated COSV50099
- ClinVar RCV001222313
- Likely pathogenic
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Likely pathogenic (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available