K20N (p.Lys20Asn) variant of ETFDH (Q16134)
K20N (p.Lys20Asn) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- gnomAD 4-158680488-TAA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available