D43V (p.Asp43Val) variant of GABRG2 (P18507)
D43V (p.Asp43Val) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D43V (p.Asp43Val) variant details
- p.Asp43Val
- rs1760796569
- ClinGen CA362182872
- ClinVar RCV003796138
- ClinVar RCV004780648
- Uncertain significance
- not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 26.90
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available