L35I (p.Leu35Ile) variant of GABRA1 (P14867)
L35I (p.Leu35Ile) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Idiopathic generalized epilepsy; Epilepsy, idiopathic g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L35I (p.Leu35Ile) variant details
- p.Leu35Ile
- rs1463015106
- ClinGen CA362181500
- ClinVar RCV002639898
- ClinVar RCV004973546
- Uncertain significance
- Inborn genetic diseases; Idiopathic generalized epilepsy; Epilepsy, idiopathic g
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.13
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases; Idiopathic generalized epilepsy; Epilep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-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)