F5L (p.Phe5Leu) variant of ACADM (P11310)
F5L (p.Phe5Leu) in ACADM (P11310) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- rs1024056446
- ClinGen CA24616982
- ClinVar RCV000755769
- ClinVar RCV001830649
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.24
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)