K8N (p.Lys8Asn) variant of ASXL3 (Q9C0F0)
K8N (p.Lys8Asn) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K8N (p.Lys8Asn) variant details
- p.Lys8Asn
- gnomAD 18-33578655-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.08
- ESM-1b 0.68
- AlphaMissense 0.98
- MetaLR 0.16
- MetaSVM -0.86
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available