L11L (p.Leu11Leu) variant of ETFDH (Q16134)
L11L (p.Leu11Leu) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- rs377132634
- gnomAD 4-158672489-G-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available