N29K (p.Asn29Lys) variant of GABRB3 (P28472)
N29K (p.Asn29Lys) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data and structural context.
N29K (p.Asn29Lys) variant details
- p.Asn29Lys
- rs772263479
- ClinGen CA391465520
- ClinVar RCV001203891
- ExAC rs772263479
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.17
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available