A30V (p.Ala30Val) variant of ASXL3 (Q9C0F0)
A30V (p.Ala30Val) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 18-33607628-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.94
- MetaLR 0.04
- MetaSVM -1.10
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available