N25S (p.Asn25Ser) variant of ASXL3 (Q9C0F0)
N25S (p.Asn25Ser) in ASXL3 (Q9C0F0) 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 0.34 / 1. The record also includes population frequency data and structural context.
N25S (p.Asn25Ser) variant details
- p.Asn25Ser
- TOPMed rs1333815571
- gnomAD rs1333815571
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.13
- ESM-1b 0.89
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -0.96
- CADD 25.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available