D3N (p.Asp3Asn) variant of ASXL1 (Polycomb group protein ASXL1)
D3N (p.Asp3Asn) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- gnomAD rs1362206875
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.09
- CADD 26.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available