S26P (p.Ser26Pro) variant of ASXL3 (Q9C0F0)
S26P (p.Ser26Pro) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S26P (p.Ser26Pro) variant details
- p.Ser26Pro
- gnomAD 18-33607615-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.06
- MetaSVM -1.03
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available