P124L (p.Pro124Leu) variant of GABRA1 (P14867)
P124L (p.Pro124Leu) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy, idiopathic generalized, susceptibility to, 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P124L (p.Pro124Leu) variant details
- p.Pro124Leu
- rs2532239437
- ClinGen CA362178929
- ClinVar RCV003315153
- NCI-TCGA TCGA novel
- Likely pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.97
- CADD 26.60
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Likely pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 13)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available