K4R (p.Lys4Arg) variant of ASXL3 (Q9C0F0)
K4R (p.Lys4Arg) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- TOPMed rs1484690727
- gnomAD rs1484690727
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.06
- MetaSVM -1.09
- CADD 24.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available