A16S (p.Ala16Ser) variant of ASXL3 (Q9C0F0)
A16S (p.Ala16Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 18-33578677-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.09
- MetaSVM -1.05
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available