A300D (p.Ala300Asp) variant of GABRG2 (P18507)
A300D (p.Ala300Asp) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A300D (p.Ala300Asp) variant details
- p.Ala300Asp
- rs543339576
- ClinGen CA362182235
- ClinVar RCV001260613
- 1000Genomes rs543339576
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.32
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)