A106T (p.Ala106Thr) variant of GABRG2 (P18507)
A106T (p.Ala106Thr) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 74; Febrile seizures, familial, 8; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A106T (p.Ala106Thr) variant details
- p.Ala106Thr
- rs796052505
- ClinGen CA314712
- NCI-TCGA Cosmic COSV6272
- cosmic curated COSV62721
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 74; Febrile seizures, familial, 8; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 19.30
- PolyPhen-2 0.06
- SIFT 1.00
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 74; Febrile seizures)
- EBI: Pathogenic (in DEE74)
- UniProt: Pathogenic (in DEE74)
- Population evidence available
- Structural context available
- Cited in: De novo GABRG2 mutations associated with epileptic encephalopathies. (PMID 27864268)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)