K101R (p.Lys101Arg) variant of ASH1L (Q9NR48)
K101R (p.Lys101Arg) 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; not provided. The record also includes variant effect predictions and published literature.
K101R (p.Lys101Arg) variant details
- p.Lys101Arg
- rs1668865625
- ClinGen CA342714029
- ClinVar RCV003332864
- ClinVar RCV005485385
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- AlphaMissense 0.33
- MetaLR 0.84
- MetaSVM 0.95
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)