A30T (p.Ala30Thr) variant of ASXL3 (Q9C0F0)
A30T (p.Ala30Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- ExAC rs774236876
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.92
- MetaLR 0.03
- MetaSVM -1.08
- CADD 23.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available