H24R (p.His24Arg) variant of BCL11B (B-cell lymphoma/leukemia 11B)
H24R (p.His24Arg) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H24R (p.His24Arg) variant details
- p.His24Arg
- rs754532599
- ClinGen CA7339948
- ClinVar RCV002096093
- ClinVar RCV004045832
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)