T47A (p.Thr47Ala) variant of ETFDH (Q16134)
T47A (p.Thr47Ala) in ETFDH (Q16134) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- rs924962456
- ClinGen CA108847641
- ClinVar RCV001934241
- TOPMed rs924962456
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.46
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.06
- 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 2.7e-06)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)