R24P (p.Arg24Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R24P (p.Arg24Pro) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R24P (p.Arg24Pro) variant details
- p.Arg24Pro
- gnomAD 12-113058263-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- MetaLR 0.21
- MetaSVM -0.81
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available