P24H (p.Pro24His) variant of ASXL3 (Q9C0F0)
P24H (p.Pro24His) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P24H (p.Pro24His) variant details
- p.Pro24His
- gnomAD 18-33607610-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.20
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available