D33N (p.Asp33Asn) variant of GABRA1 (P14867)
D33N (p.Asp33Asn) 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 0.55 / 1. The record also includes population frequency data and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs1172174788
- ClinGen CA362181484
- cosmic curated COSV10500
- ClinVar RCV003801573
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.36
- CADD 33.00
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available