K22N (p.Lys22Asn) variant of ASXL3 (Q9C0F0)
K22N (p.Lys22Asn) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
K22N (p.Lys22Asn) variant details
- p.Lys22Asn
- gnomAD 18-33607600-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 27.60
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available