P119R (p.Pro119Arg) variant of ASH1L (Q9NR48)
P119R (p.Pro119Arg) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
P119R (p.Pro119Arg) variant details
- p.Pro119Arg
- rs375367640
- ClinGen CA1147500
- ClinVar RCV004420728
- ClinVar RCV004723581
- Uncertain significance
- Intellectual disability, autosomal dominant 52; Inborn genetic diseases
- Missense
- REVEL 0.43
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 52; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)