S21R (p.Ser21Arg) variant of ETFA (P13804)
S21R (p.Ser21Arg) in ETFA (P13804) 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 0.47 / 1. The record also includes published literature and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- rs1596224387
- ClinGen CA393518031
- ClinVar RCV000824188
- Ensembl rs1596224387
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- ESM-1b 0.48
- AlphaMissense 0.75
- MetaLR 0.32
- MetaSVM -0.54
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)