L9I (p.Leu9Ile) variant of GABRB3 (P28472)
L9I (p.Leu9Ile) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 0.25 / 1. The record also includes population frequency data and structural context.
L9I (p.Leu9Ile) variant details
- p.Leu9Ile
- rs556238396
- ClinGen CA7437587
- ClinVar RCV003800642
- 1000Genomes rs556238396
- Benign
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.14
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Benign (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available