p.Arg32 Trp33insSerArg variant of ETFDH (Q16134)
p.Arg32 Trp33insSerArg in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg32 Trp33insSerArg variant details
- gnomAD 4-158680528-A-ATC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available