Q100H (p.Gln100His) variant of ETFA (P13804)
Q100H (p.Gln100His) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q100H (p.Gln100His) variant details
- p.Gln100His
- rs948361766
- ClinGen CA273699430
- ClinVar RCV001912666
- TOPMed rs948361766
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.45
- CADD 22.00
- PolyPhen-2 0.15
- SIFT 0.27
- 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)