A30S (p.Ala30Ser) variant of ASXL3 (Q9C0F0)
A30S (p.Ala30Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 18-33607627-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.03
- MetaSVM -1.09
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available