T29S (p.Thr29Ser) variant of ASXL3 (Q9C0F0)
T29S (p.Thr29Ser) 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.
T29S (p.Thr29Ser) variant details
- p.Thr29Ser
- gnomAD 18-33607624-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.60
- MetaLR 0.05
- MetaSVM -1.05
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available