N13K (p.Asn13Lys) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
N13K (p.Asn13Lys) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N13K (p.Asn13Lys) variant details
- p.Asn13Lys
- gnomAD 12-113058231-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- MetaLR 0.02
- MetaSVM -1.06
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available