A130T (p.Ala130Thr) variant of ETFA (P13804)
A130T (p.Ala130Thr) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A130T (p.Ala130Thr) variant details
- p.Ala130Thr
- rs2543025144
- ClinGen CA393515126
- ClinVar RCV003029545
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.56
- ESM-1b 0.64
- AlphaMissense 0.19
- CADD 23.30
- PolyPhen-2 0.63
- SIFT 0.05
- 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)