N133S (p.Asn133Ser) variant of ASH1L (Q9NR48)
N133S (p.Asn133Ser) 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.
N133S (p.Asn133Ser) variant details
- p.Asn133Ser
- rs1238441171
- ClinGen CA342712767
- cosmic curated COSV64211
- ClinVar RCV002472226
- Uncertain significance
- Intellectual disability, autosomal dominant 52
- Missense
- REVEL 0.35
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 52)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YI population (allele frequency 0.05)