E27D (p.Glu27Asp) variant of ETFA (P13804)
E27D (p.Glu27Asp) 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.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs772068605
- ClinGen CA393517995
- ClinVar RCV000809428
- ExAC rs772068605
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 18.80
- PolyPhen-2 0.51
- SIFT 0.05
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)