I6T (p.Ile6Thr) variant of GABRG2 (P18507)
I6T (p.Ile6Thr) 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 0.16 / 1. The record also includes population frequency data and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- rs759392289
- ClinGen CA3544639
- ClinVar RCV000706834
- ExAC rs759392289
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available