S26L (p.Ser26Leu) variant of ASXL3 (Q9C0F0)
S26L (p.Ser26Leu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S26L (p.Ser26Leu) variant details
- p.Ser26Leu
- gnomAD 18-33607616-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.03
- MetaSVM -1.09
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available