Q20P (p.Gln20Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
Q20P (p.Gln20Pro) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q20P (p.Gln20Pro) variant details
- p.Gln20Pro
- gnomAD rs2044643291
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- MetaLR 0.03
- MetaSVM -1.06
- CADD 23.70
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available