P83L (p.Pro83Leu) variant of GABRG2 (P18507)
P83L (p.Pro83Leu) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.94 / 1. The record also includes structural context.
P83L (p.Pro83Leu) variant details
- p.Pro83Leu
- rs1760808499
- ClinGen CA362183136
- ClinVar RCV001346520
- Ensembl rs1760808499
- Likely pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available