T24K (p.Thr24Lys) variant of GABRG2 (P18507)
T24K (p.Thr24Lys) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
T24K (p.Thr24Lys) variant details
- p.Thr24Lys
- rs1060501891
- ClinGen CA16611804
- ClinVar RCV000464179
- Ensembl rs1060501891
- Uncertain significance
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.10
- MetaLR 0.21
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.15
- MutPred 0.67
- ClinVar: Uncertain significance (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available