S4I (p.Ser4Ile) variant of GABRA1 (P14867)
S4I (p.Ser4Ile) 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 0.24 / 1. The record also includes population frequency data and structural context.
S4I (p.Ser4Ile) variant details
- p.Ser4Ile
- cosmic curated COSV10500
- TOPMed rs796052487
- gnomAD rs796052487
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.06
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available