P35L (p.Pro35Leu) variant of GABRG2 (P18507)
P35L (p.Pro35Leu) in GABRG2 (P18507) 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, 2; Febrile seizures, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs1189639394
- ClinGen CA362181918
- ClinVar RCV003793034
- TOPMed rs1189639394
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.09
- MetaLR 0.23
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.36
- MutPred 0.43
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available