T29A (p.Thr29Ala) variant of ASXL3 (Q9C0F0)
T29A (p.Thr29Ala) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- TOPMed rs1454030713
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.12
- MetaSVM -0.84
- CADD 25.20
- Population evidence available
- Structural context available