F113L (p.Phe113Leu) variant of ACADVL (P49748)
F113L (p.Phe113Leu) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
F113L (p.Phe113Leu) variant details
- p.Phe113Leu
- rs750653177
- ClinGen CA397722617
- ClinVar RCV000541584
- ExAC rs750653177
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.80
- CADD 25.60
- PolyPhen-2 0.86
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)