L26I (p.Leu26Ile) variant of ETFDH (Q16134)
L26I (p.Leu26Ile) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L26I (p.Leu26Ile) variant details
- p.Leu26Ile
- gnomAD 4-158680508-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.27
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available