S22L (p.Ser22Leu) variant of ACADVL (P49748)
S22L (p.Ser22Leu) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- rs727503788
- ClinGen CA8337542
- ClinVar RCV003110861
- ClinVar RCV004754964
- Uncertain significance
- Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.07
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)