R10G (p.Arg10Gly) variant of ASXL3 (Q9C0F0)
R10G (p.Arg10Gly) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- gnomAD 18-33578659-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.40
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available