V55I (p.Val55Ile) variant of ETFA (P13804)
V55I (p.Val55Ile) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- rs1035217923
- ClinGen CA273700332
- ClinVar RCV002019449
- TOPMed rs1035217923
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.26
- ESM-1b 0.09
- AlphaMissense 0.10
- CADD 21.40
- PolyPhen-2 0.12
- SIFT 0.12
- 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 9e-07)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)