A98T (p.Ala98Thr) variant of GABRB3 (P28472)
A98T (p.Ala98Thr) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A98T (p.Ala98Thr) variant details
- p.Ala98Thr
- rs756369937
- ClinGen CA7437469
- cosmic curated COSV54659
- ClinVar RCV000646108
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.42
- CADD 22.60
- PolyPhen-2 0.30
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 43; Epilepsy, childh)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)