H2R (p.His2Arg) variant of KDM6B (Lysine-specific demethylase 6B)
H2R (p.His2Arg) in KDM6B (Lysine-specific demethylase 6B) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H2R (p.His2Arg) variant details
- p.His2Arg
- rs1318862422
- ClinGen CA397909808
- ClinVar RCV004409185
- TOPMed rs1318862422
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.33
- MetaLR 0.14
- MetaSVM -0.87
- CADD 25.60
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- 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)