N32S (p.Asn32Ser) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
N32S (p.Asn32Ser) 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 and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- 1000Genomes rs968368004
- TOPMed rs968368004
- gnomAD rs968368004
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- MetaLR 0.08
- MetaSVM -1.06
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available