R17H (p.Arg17His) variant of ASXL3 (Q9C0F0)
R17H (p.Arg17His) 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.
R17H (p.Arg17His) variant details
- p.Arg17His
- gnomAD 18-33578681-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.03
- MetaSVM -1.05
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- Literature evidence available