Q14H (p.Gln14His) variant of ETFDH (Q16134)
Q14H (p.Gln14His) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q14H (p.Gln14His) variant details
- p.Gln14His
- rs1773824132
- ClinGen CA358573261
- ClinVar RCV002618350
- TOPMed rs1773824132
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.23
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.22
- 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 2.7e-06)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)