L29F (p.Leu29Phe) variant of GABRG2 (P18507)
L29F (p.Leu29Phe) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- rs2113081191
- ClinGen CA362181881
- ClinVar RCV002048438
- Ensembl rs2113081191
- Uncertain significance
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 22.70
- PolyPhen-2 0.14
- SIFT 0.17
- ClinVar: Uncertain significance (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available