P24L (p.Pro24Leu) variant of ASXL3 (Q9C0F0)
P24L (p.Pro24Leu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- gnomAD 18-33607610-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.08
- MetaSVM -1.09
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available