I42L (p.Ile42Leu) variant of ETFDH (Q16134)
I42L (p.Ile42Leu) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I42L (p.Ile42Leu) variant details
- p.Ile42Leu
- ExAC rs199546824
- gnomAD rs199546824
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.51
- CADD 21.90
- PolyPhen-2 0.44
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available