L62R (p.Leu62Arg) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
L62R (p.Leu62Arg) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L62R (p.Leu62Arg) variant details
- p.Leu62Arg
- rs1566011809
- Ensembl rs1566011809
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 1.00
- MetaLR 0.48
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available