R17C (p.Arg17Cys) variant of ASXL3 (Q9C0F0)
R17C (p.Arg17Cys) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- gnomAD 18-33578680-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.03
- MetaSVM -1.02
- CADD 24.50
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available