L19* (p.Leu19Ter) variant of ETFDH (Q16134)
L19* (p.Leu19Ter) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L19* (p.Leu19Ter) variant details
- p.Leu19Ter
- rs2150304339
- gnomAD 4-158680486-CT-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available