H34N (p.His34Asn) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
H34N (p.His34Asn) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H34N (p.His34Asn) variant details
- p.His34Asn
- gnomAD rs1241663277
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- MetaLR 0.06
- MetaSVM -1.08
- CADD 19.80
- PolyPhen-2 0.27
- SIFT 0.00
- Population evidence available
- Structural context available