A161T (p.Ala161Thr) variant of ACADVL (P49748)
A161T (p.Ala161Thr) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A161T (p.Ala161Thr) variant details
- p.Ala161Thr
- rs375284481
- ClinGen CA8337740
- ClinVar RCV000271784
- ClinVar RCV004719799
- Conflicting interpretations
- not provided; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.77
- CADD 22.80
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)