R41S (p.Arg41Ser) variant of ETFDH (Q16134)
R41S (p.Arg41Ser) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- gnomAD 4-158680551-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 27.90
- Population evidence available
- Structural context available
- Literature evidence available