P57L (p.Pro57Leu) variant of ACAD9 (Q9H845)
P57L (p.Pro57Leu) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- rs1486453975
- ClinGen CA354430109
- ClinVar RCV002036768
- TOPMed rs1486453975
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available