C136S (p.Cys136Ser) variant of ASH1L (Q9NR48)
C136S (p.Cys136Ser) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 52. The record also includes variant effect predictions and population frequency data.
C136S (p.Cys136Ser) variant details
- p.Cys136Ser
- rs1233740479
- ClinGen CA342712619
- ClinVar RCV002471743
- TOPMed rs1233740479
- Uncertain significance
- Intellectual disability, autosomal dominant 52
- Missense
- REVEL 0.30
- CADD 19.50
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 52)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)