S2P (p.Ser2Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
S2P (p.Ser2Pro) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- gnomAD rs1376411592
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- MetaLR 0.03
- MetaSVM -1.05
- CADD 24.20
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)