D55N (p.Asp55Asn) variant of GABRB3 (P28472)
D55N (p.Asp55Asn) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D55N (p.Asp55Asn) variant details
- p.Asp55Asn
- rs537830865
- NCI-TCGA Cosmic COSV5469
- cosmic curated COSV54690
- 1000Genomes rs537830865
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.86
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available