V18L (p.Val18Leu) variant of GABRG2 (P18507)
V18L (p.Val18Leu) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- rs141106898
- ClinGen CA3544644
- ClinVar RCV000878421
- ClinVar RCV002346041
- Benign/Likely benign
- Inborn genetic diseases; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSE
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Febrile seizures, familial, 8; EPILEPSY)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:JPT population (allele frequency 0.005)
- 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)