N53S (p.Asn53Ser) variant of ASH1L (Q9NR48)
N53S (p.Asn53Ser) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- TOPMed rs1026018290
- gnomAD rs1026018290
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.24
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)