A17S (p.Ala17Ser) variant of ETFB (P38117)
A17S (p.Ala17Ser) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- rs1333299560
- ClinGen CA407087160
- ClinVar RCV003078435
- gnomAD rs1333299560
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.17
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)