N13I (p.Asn13Ile) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
N13I (p.Asn13Ile) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N13I (p.Asn13Ile) variant details
- p.Asn13Ile
- ExAC rs746517355
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- MetaLR 0.02
- MetaSVM -1.10
- CADD 13.70
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available