H6P (p.His6Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
H6P (p.His6Pro) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H6P (p.His6Pro) variant details
- p.His6Pro
- 1000Genomes rs749069556
- ExAC rs749069556
- gnomAD rs749069556
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- MetaLR 0.01
- MetaSVM -0.95
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available