S22N (p.Ser22Asn) variant of ASH1L (Q9NR48)
S22N (p.Ser22Asn) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar 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.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- ExAC rs759915686
- gnomAD rs759915686
- Uncertain significance
- Intellectual disability, autosomal dominant 52
- Missense
- REVEL 0.43
- CADD 24.20
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 52)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)