R5K (p.Arg5Lys) variant of ASXL3 (Q9C0F0)
R5K (p.Arg5Lys) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R5K (p.Arg5Lys) variant details
- p.Arg5Lys
- Ensembl rs1555715142
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.58
- MetaLR 0.03
- MetaSVM -1.02
- CADD 20.60
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available