I48T (p.Ile48Thr) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
I48T (p.Ile48Thr) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- gnomAD rs2044644421
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- MetaLR 0.44
- MetaSVM -0.03
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available