P318S (p.Pro318Ser) variant of ACADVL (P49748)
P318S (p.Pro318Ser) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P318S (p.Pro318Ser) variant details
- p.Pro318Ser
- rs762653370
- ClinGen CA8337910
- ClinVar RCV001376738
- ClinVar RCV004770131
- Uncertain significance
- Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.95
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)