K7N (p.Lys7Asn) variant of ASXL3 (Q9C0F0)
K7N (p.Lys7Asn) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K7N (p.Lys7Asn) variant details
- p.Lys7Asn
- gnomAD 18-33578652-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.09
- MetaSVM -1.05
- CADD 27.70
- Population evidence available
- Structural context available
- Literature evidence available