V21M (p.Val21Met) variant of ACAD9 (Q9H845)
V21M (p.Val21Met) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V21M (p.Val21Met) variant details
- p.Val21Met
- ExAC rs774119156
- TOPMed rs774119156
- gnomAD rs774119156
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.29
- CADD 12.50
- PolyPhen-2 0.16
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available