E63G (p.Glu63Gly) variant of ETFDH (Q16134)
E63G (p.Glu63Gly) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E63G (p.Glu63Gly) variant details
- p.Glu63Gly
- gnomAD 4-158682207-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.71
- CADD 25.50
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available