V27A (p.Val27Ala) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V27A (p.Val27Ala) 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, published literature, and structural context.
V27A (p.Val27Ala) variant details
- p.Val27Ala
- gnomAD 12-113058272-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- MetaLR 0.32
- MetaSVM -0.31
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available