L11P (p.Leu11Pro) variant of GABRA1 (P14867)
L11P (p.Leu11Pro) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs762939760
- ClinGen CA3544307
- ClinVar RCV001441626
- ClinVar RCV002555583
- Likely benign
- Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.57
- CADD 23.80
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Likely benign (Epilepsy, idiopathic generalized, susceptibility to, 13; Epileps)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)