N50T (p.Asn50Thr) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
N50T (p.Asn50Thr) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N50T (p.Asn50Thr) variant details
- p.Asn50Thr
- gnomAD 12-113058341-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- MetaLR 0.11
- MetaSVM -0.97
- CADD 15.40
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available