A334V (p.Ala334Val) variant of GABRG2 (P18507)
A334V (p.Ala334Val) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.76 / 1. The record also includes population frequency data and structural context.
A334V (p.Ala334Val) variant details
- p.Ala334Val
- rs1415043929
- ClinGen CA362182456
- NCI-TCGA Cosmic COSV6272
- cosmic curated COSV62722
- Likely pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 26.00
- PolyPhen-2 0.68
- SIFT 0.02
- ClinVar: Likely pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available