A20V (p.Ala20Val) variant of GABRB3 (P28472)
A20V (p.Ala20Val) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs2140199975
- ClinGen CA391465593
- ClinVar RCV002027774
- ClinVar RCV002551187
- Uncertain significance
- Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases; Epilepsy, childhood absence, susceptibi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-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)