H3P (p.His3Pro) variant of HBB (Hemoglobin subunit beta)
H3P (p.His3Pro) in HBB (Hemoglobin subunit beta) is a protein-truncating change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions, published literature, and structural context.
H3P (p.His3Pro) variant details
- p.His3Pro
- Ensembl rs63750407
- Uncertain significance
- not specified
- Stop Gained
- MetaLR 0.77
- MetaSVM 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in Fukuoka)
- UniProt: Uncertain significance (in Fukuoka)
- Structural context available
- Cited in: First report of HB Long Island-Marseille in Australia--a chance discovery. (PMID 2599888)
- Cited in: Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave… (PMID 3455755)