A13T (p.Ala13Thr) variant of ASXL3 (Q9C0F0)
A13T (p.Ala13Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- gnomAD 18-33578668-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.11
- ESM-1b 0.23
- AlphaMissense 0.97
- MetaLR 0.08
- MetaSVM -1.00
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available