S2L (p.Ser2Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
S2L (p.Ser2Leu) 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.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- ExAC rs756300071
- gnomAD rs756300071
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- MetaLR 0.03
- MetaSVM -1.08
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)