D9N (p.Asp9Asn) variant of ASXL3 (Q9C0F0)
D9N (p.Asp9Asn) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- gnomAD 18-33578656-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.92
- MetaLR 0.03
- MetaSVM -1.01
- CADD 22.40
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- Literature evidence available