S3P (p.Ser3Pro) variant of GABRG2 (P18507)
S3P (p.Ser3Pro) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- ExAC rs769362559
- gnomAD rs769362559
- Uncertain significance
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available