E10D (p.Glu10Asp) variant of ASXL1 (Polycomb group protein ASXL1)
E10D (p.Glu10Asp) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- gnomAD 20-32358805-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.03
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available