A19V (p.Ala19Val) variant of ASXL3 (Q9C0F0)
A19V (p.Ala19Val) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 18-33607595-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.84
- MetaLR 0.03
- MetaSVM -1.03
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available