K53R (p.Lys53Arg) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
K53R (p.Lys53Arg) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- Ensembl rs2044644593
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- MetaLR 0.04
- MetaSVM -1.03
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available