P24T (p.Pro24Thr) variant of ASXL3 (Q9C0F0)
P24T (p.Pro24Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- rs866252239
- gnomAD 18-33607609-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.09
- MetaSVM -1.05
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available