S26T (p.Ser26Thr) variant of ASXL3 (Q9C0F0)
S26T (p.Ser26Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S26T (p.Ser26Thr) variant details
- p.Ser26Thr
- gnomAD 18-33607615-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.02
- MetaSVM -1.06
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available