T24R (p.Thr24Arg) variant of GABRG2 (P18507)
T24R (p.Thr24Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
T24R (p.Thr24Arg) variant details
- p.Thr24Arg
- rs1060501891
- ClinGen CA362181852
- ClinVar RCV001979188
- Ensembl rs1060501891
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.10
- MetaLR 0.21
- MetaSVM -0.82
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available