I21L (p.Ile21Leu) variant of ETFDH (Q16134)
I21L (p.Ile21Leu) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I21L (p.Ile21Leu) variant details
- p.Ile21Leu
- gnomAD 4-158680488-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available