E58K (p.Glu58Lys) variant of ETFDH (Q16134)
E58K (p.Glu58Lys) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- TOPMed rs1473188524
- gnomAD rs1473188524
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.79
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available