L28L (p.Leu28Leu) variant of ETFDH (Q16134)
L28L (p.Leu28Leu) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- gnomAD 4-158680514-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 10.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available