L8L (p.Leu8Leu) variant of ETFDH (Q16134)
L8L (p.Leu8Leu) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- gnomAD 4-158672478-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available