L17F (p.Leu17Phe) variant of ACADVL (P49748)
L17F (p.Leu17Phe) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- rs2230179
- ClinGen CA341522
- ClinVar RCV000020078
- ClinVar RCV000224359
- Benign
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.24
- CADD 6.03
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Benign (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Benign (in dbSNP:rs2230179)
- UniProt: Benign (in dbSNP:rs2230179)
- Most common in the HGDP:YORUBA population (allele frequency 0.12)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)