G57A (p.Gly57Ala) variant of ETFA (P13804)
G57A (p.Gly57Ala) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- rs146299082
- ClinGen CA7673853
- ClinVar RCV001277763
- ClinVar RCV004774373
- Uncertain significance
- not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.94
- MetaSVM 1.08
- CADD 26.60
- ClinVar: Uncertain significance (not provided; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)