p.Asn13 Gly14del variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
p.Asn13 Gly14del in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
p.Asn13 Gly14del variant details
- rs2044642959
- gnomAD 12-113058228-GAAT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 20.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available