K20K (p.Lys20Lys) variant of ETFDH (Q16134)
K20K (p.Lys20Lys) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K20K (p.Lys20Lys) variant details
- p.Lys20Lys
- gnomAD 4-158680492-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 10.20
- Population evidence available
- Structural context available
- Literature evidence available