G29E (p.Gly29Glu) variant of ACADVL (P49748)
G29E (p.Gly29Glu) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency. 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.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- rs1247979958
- ClinGen CA397722062
- ClinVar RCV000652040
- gnomAD rs1247979958
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.28
- SIFT 0.09
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)