A15V (p.Ala15Val) variant of ASXL3 (Q9C0F0)
A15V (p.Ala15Val) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- gnomAD 18-33578675-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.07
- MetaSVM -1.03
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available