R109Q (p.Arg109Gln) variant of ASH1L (Q9NR48)
R109Q (p.Arg109Gln) 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.
R109Q (p.Arg109Gln) variant details
- p.Arg109Gln
- rs757357705
- ClinGen CA342713603
- ClinVar RCV003331798
- ExAC rs757357705
- Conflicting interpretations
- Intellectual disability, autosomal dominant 52
- Missense
- REVEL 0.43
- CADD 25.60
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability, autosomal dominant 52)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)