Y40F (p.Tyr40Phe) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
Y40F (p.Tyr40Phe) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y40F (p.Tyr40Phe) variant details
- p.Tyr40Phe
- Ensembl rs2136420713
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- MetaLR 0.53
- MetaSVM 0.16
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available