W28R (p.Trp28Arg) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
W28R (p.Trp28Arg) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
W28R (p.Trp28Arg) variant details
- p.Trp28Arg
- gnomAD 12-113058274-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- MetaLR 0.86
- MetaSVM 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available