P83T (p.Pro83Thr) variant of GABRG2 (P18507)
P83T (p.Pro83Thr) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.92 / 1. The record also includes structural context.
P83T (p.Pro83Thr) variant details
- p.Pro83Thr
- rs587777365
- ClinGen CA362183134
- ClinVar RCV002289495
- ClinVar RCV003774962
- Conflicting interpretations
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Conflicting classifications of pathogenicity (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available