H46Q (p.His46Gln) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
H46Q (p.His46Gln) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H46Q (p.His46Gln) variant details
- p.His46Gln
- ExAC rs775900132
- gnomAD rs775900132
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- MetaLR 0.13
- MetaSVM -0.99
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available