N110S (p.Asn110Ser) variant of GABRB3 (P28472)
N110S (p.Asn110Ser) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N110S (p.Asn110Ser) variant details
- p.Asn110Ser
- rs751329477
- ClinGen CA7437465
- ClinVar RCV001562969
- ClinVar RCV001865984
- Conflicting interpretations
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.37
- CADD 23.80
- PolyPhen-2 0.47
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)