A153P (p.Ala153Pro) variant of ETFA (P13804)
A153P (p.Ala153Pro) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A153P (p.Ala153Pro) variant details
- p.Ala153Pro
- rs1398343360
- ClinGen CA393513923
- ClinVar RCV001217994
- ClinVar RCV001828734
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 25.40
- 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 2.4e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)