A16V (p.Ala16Val) variant of ASXL3 (Q9C0F0)
A16V (p.Ala16Val) 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.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD 18-33578678-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.12
- MetaSVM -1.00
- CADD 25.50
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- Literature evidence available