N25D (p.Asn25Asp) variant of ASXL3 (Q9C0F0)
N25D (p.Asn25Asp) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N25D (p.Asn25Asp) variant details
- p.Asn25Asp
- gnomAD 18-33607612-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- ESM-1b 0.94
- AlphaMissense 0.37
- MetaLR 0.06
- MetaSVM -1.01
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available