W12L (p.Trp12Leu) variant of GABRA1 (P14867)
W12L (p.Trp12Leu) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
W12L (p.Trp12Leu) variant details
- p.Trp12Leu
- rs1757416348
- ClinGen CA362181107
- ClinVar RCV002829583
- ClinVar RCV003274049
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.36
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)