P59S (p.Pro59Ser) variant of GABRB3 (P28472)
P59S (p.Pro59Ser) in GABRB3 (P28472) 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, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs1555383878
- ClinGen CA391465308
- ClinVar RCV000525350
- ClinVar RCV002413573
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.26
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)