G175D (p.Gly175Asp) variant of ACADVL (P49748)
G175D (p.Gly175Asp) in ACADVL (P49748) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
G175D (p.Gly175Asp) variant details
- p.Gly175Asp
- ExAC rs775941142
- TOPMed rs775941142
- gnomAD rs775941142
- Conflicting interpretations
- not provided; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.92
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Very long chain acyl-CoA dehydrogenase deficiency)
- UniProt: Conflicting interpretations
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available