K23E (p.Lys23Glu) variant of ETFDH (Q16134)
K23E (p.Lys23Glu) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- TOPMed rs932843866
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.33
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available