H34P (p.His34Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
H34P (p.His34Pro) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H34P (p.His34Pro) variant details
- p.His34Pro
- ExAC rs201878530
- TOPMed rs201878530
- gnomAD rs201878530
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- MetaLR 0.15
- MetaSVM -0.93
- CADD 23.90
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available