V22L (p.Val22Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V22L (p.Val22Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- rs752771858
- ClinGen CA386816874
- ClinVar RCV004363929
- ExAC rs752771858
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- MetaLR 0.02
- MetaSVM -1.00
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available