A16T (p.Ala16Thr) variant of ASXL3 (Q9C0F0)
A16T (p.Ala16Thr) 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 and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- Ensembl rs2145082927
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.12
- MetaSVM -1.01
- CADD 24.70
- Most common in the East Asian population (allele frequency 4.9e-05)
- Structural context available