R140Q (p.Arg140Gln) variant of ASH1L (Q9NR48)
R140Q (p.Arg140Gln) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
R140Q (p.Arg140Gln) variant details
- p.Arg140Gln
- cosmic curated COSV64211
- ESP rs368390442
- ExAC rs368390442
- TOPMed rs368390442
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.23
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)