R518C (p.Arg518Cys) variant of ACAD9 (Q9H845)
R518C (p.Arg518Cys) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ACAD9-related disorder; Mitochondrial complex I deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R518C (p.Arg518Cys) variant details
- p.Arg518Cys
- rs150283105
- ClinGen CA353821
- ClinVar RCV000811609
- ClinVar RCV001275866
- Pathogenic/Likely pathogenic
- ACAD9-related disorder; Mitochondrial complex I deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.64
- CADD 24.10
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ACAD9-related disorder; Mitochondrial complex I deficiency; not)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available