P18A (p.Pro18Ala) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
P18A (p.Pro18Ala) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- ExAC rs763349356
- TOPMed rs763349356
- gnomAD rs763349356
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- MetaLR 0.02
- MetaSVM -1.09
- CADD 20.50
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available