I108N (p.Ile108Asn) variant of ETFA (P13804)
I108N (p.Ile108Asn) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I108N (p.Ile108Asn) variant details
- p.Ile108Asn
- rs1414148078
- ClinGen CA393516830
- ClinVar RCV000696645
- ClinVar RCV001825367
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- 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 2.9e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)