F17C (p.Phe17Cys) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
F17C (p.Phe17Cys) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
F17C (p.Phe17Cys) variant details
- p.Phe17Cys
- gnomAD 12-113058242-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- MetaLR 0.04
- MetaSVM -1.10
- CADD 27.30
- PolyPhen-2 0.54
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available