A213P (p.Ala213Pro) variant of ACADVL (P49748)
A213P (p.Ala213Pro) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A213P (p.Ala213Pro) variant details
- p.Ala213Pro
- rs140629318
- ClinGen CA233431
- ClinVar RCV000152737
- ClinVar RCV000702574
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)
- Cited in: Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. (PMID 17374501)