K31N (p.Lys31Asn) variant of ASXL3 (Q9C0F0)
K31N (p.Lys31Asn) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- gnomAD 18-33607632-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.15
- MetaSVM -0.83
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available