I21F (p.Ile21Phe) variant of ETFDH (Q16134)
I21F (p.Ile21Phe) in ETFDH (Q16134) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I21F (p.Ile21Phe) variant details
- p.Ile21Phe
- rs780991832
- ClinGen CA3122275
- ClinVar RCV001279047
- ExAC rs780991832
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.25
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.36
- 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 3.6e-06)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)