R52W (p.Arg52Trp) variant of ASH1L (Q9NR48)
R52W (p.Arg52Trp) 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; Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- rs199618784
- ClinGen CA1147525
- cosmic curated COSV64208
- ClinVar RCV002641492
- Conflicting interpretations
- Intellectual disability, autosomal dominant 52; Inborn genetic diseases
- Missense
- REVEL 0.23
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability, autosomal dominant 52; Inborn genetic d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00057)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)