H166R (p.His166Arg) variant of ATRX (Chromatin remodeler ATRX)
H166R (p.His166Arg) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
H166R (p.His166Arg) variant details
- p.His166Arg
- rs2148657354
- ClinGen CA413722786
- ClinVar RCV002878097
- Ensembl rs2148657354
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.93
- MetaSVM 1.13
- PolyPhen-2 0.95
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context 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)