P18S (p.Pro18Ser) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
P18S (p.Pro18Ser) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- gnomAD 12-113058244-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available