D3N (p.Asp3Asn) variant of ASXL3 (Q9C0F0)
D3N (p.Asp3Asn) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- gnomAD 18-33578638-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available