L26P (p.Leu26Pro) variant of ETFDH (Q16134)
L26P (p.Leu26Pro) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L26P (p.Leu26Pro) variant details
- p.Leu26Pro
- gnomAD rs1468249810
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.42
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available