A13V (p.Ala13Val) variant of ASXL3 (Q9C0F0)
A13V (p.Ala13Val) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 18-33578669-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.08
- MetaSVM -1.00
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available