N122D (p.Asn122Asp) variant of ACADVL (P49748)
N122D (p.Asn122Asp) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N122D (p.Asn122Asp) variant details
- p.Asn122Asp
- rs1057520088
- ClinGen CA16603209
- ClinVar RCV000432463
- ClinVar RCV000690847
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.86
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)