L29P (p.Leu29Pro) variant of ACAD9 (Q9H845)
L29P (p.Leu29Pro) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- ExAC rs760045117
- TOPMed rs760045117
- gnomAD rs760045117
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.34
- CADD 5.63
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available