P29L (p.Pro29Leu) variant of GABRA1 (P14867)
P29L (p.Pro29Leu) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs200218956
- ClinGen CA314688
- ClinVar RCV000585014
- ClinVar RCV001068548
- Conflicting interpretations
- Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.23
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized,)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00018)
- 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)