R36C (p.Arg36Cys) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R36C (p.Arg36Cys) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- Ensembl rs958902509
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- MetaLR 0.23
- MetaSVM -0.71
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available