N84K (p.Asn84Lys) variant of ASH1L (Q9NR48)
N84K (p.Asn84Lys) 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, population frequency data, and published literature.
N84K (p.Asn84Lys) variant details
- p.Asn84Lys
- rs754468135
- ClinGen CA1147511
- ClinVar RCV004420722
- ExAC rs754468135
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.40
- CADD 20.90
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)