T58S (p.Thr58Ser) variant of ETFA (P13804)
T58S (p.Thr58Ser) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T58S (p.Thr58Ser) variant details
- p.Thr58Ser
- rs1166705959
- ClinGen CA393517806
- ClinVar RCV001330795
- gnomAD rs1166705959
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)