A18C (p.Ala18Cys) variant of ETFDH (Q16134)
A18C (p.Ala18Cys) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A18C (p.Ala18Cys) variant details
- p.Ala18Cys
- rs796051964
- gnomAD 4-158680482-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 27.50
- Population evidence available
- Structural context available
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)