E58G (p.Glu58Gly) variant of ETFDH (Q16134)
E58G (p.Glu58Gly) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E58G (p.Glu58Gly) variant details
- p.Glu58Gly
- gnomAD 4-158680605-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.61
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available