R17G (p.Arg17Gly) variant of ASXL3 (Q9C0F0)
R17G (p.Arg17Gly) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- gnomAD 18-33578680-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.70
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available
- Literature evidence available