P4L (p.Pro4Leu) variant of GABRG2 (P18507)
P4L (p.Pro4Leu) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs375295110
- ClinGen CA314756
- ClinVar RCV000819605
- ClinVar RCV001704990
- Conflicting interpretations
- Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBI)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00048)
- 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)