P253T (p.Pro253Thr) variant of GABRB3 (P28472)
P253T (p.Pro253Thr) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
P253T (p.Pro253Thr) variant details
- p.Pro253Thr
- rs1890229008
- ClinGen CA391463232
- ClinVar RCV001219964
- ClinVar RCV001266393
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Epilepsy, childhood absence, susceptibi)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)