L2L (p.Leu2Leu) variant of ETFDH (Q16134)
L2L (p.Leu2Leu) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L2L (p.Leu2Leu) variant details
- p.Leu2Leu
- rs2150300532
- gnomAD 4-158672462-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 9.48
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available