S4N (p.Ser4Asn) variant of GABRA1 (P14867)
S4N (p.Ser4Asn) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- rs796052487
- ClinGen CA314659
- ClinVar RCV000187491
- ClinVar RCV001033996
- Benign/Likely benign
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.07
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Benign/Likely benign (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available