K53K (p.Lys53Lys) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
K53K (p.Lys53Lys) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K53K (p.Lys53Lys) variant details
- p.Lys53Lys
- gnomAD 12-113058351-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 11.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available