L9P (p.Leu9Pro) variant of GABRB3 (P28472)
L9P (p.Leu9Pro) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, child. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs2504095953
- ClinGen CA391465663
- ClinVar RCV003323230
- ClinVar RCV003777332
- Uncertain significance
- not provided; Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, child
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.42
- CADD 21.80
- PolyPhen-2 0.09
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Epilepsy, childhood absence, susceptibility to, 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)
- Structural context available