S74L (p.Ser74Leu) variant of ASH1L (Q9NR48)
S74L (p.Ser74Leu) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual disability, autosomal dominant 52. The record also includes variant effect predictions and population frequency data.
S74L (p.Ser74Leu) variant details
- p.Ser74Leu
- rs769272721
- ClinGen CA1147514
- ClinVar RCV003141575
- ExAC rs769272721
- Conflicting interpretations
- Intellectual disability, autosomal dominant 52
- Missense
- REVEL 0.57
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability, autosomal dominant 52)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)