R3P (p.Arg3Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R3P (p.Arg3Pro) 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, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- gnomAD 12-113058200-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- MetaLR 0.07
- MetaSVM -1.09
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available