K4N (p.Lys4Asn) variant of ASXL3 (Q9C0F0)
K4N (p.Lys4Asn) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- gnomAD 18-33578643-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 28.60
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- Literature evidence available