R41R (p.Arg41Arg) variant of ETFDH (Q16134)
R41R (p.Arg41Arg) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R41R (p.Arg41Arg) variant details
- p.Arg41Arg
- gnomAD 4-158680553-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available