V60A (p.Val60Ala) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V60A (p.Val60Ala) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V60A (p.Val60Ala) variant details
- p.Val60Ala
- ExAC rs780013460
- TOPMed rs780013460
- gnomAD rs780013460
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- MetaLR 0.32
- MetaSVM -0.30
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available