F70L (p.Phe70Leu) variant of ACAD9 (Q9H845)
F70L (p.Phe70Leu) in ACAD9 (Q9H845) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
F70L (p.Phe70Leu) variant details
- p.Phe70Leu
- NCI-TCGA Cosmic COSV5830
- ExAC rs758120770
- TOPMed rs758120770
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.40
- CADD 6.86
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available