P40L (p.Pro40Leu) variant of ETFDH (Q16134)
P40L (p.Pro40Leu) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- gnomAD 4-158680551-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.83
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available