V24I (p.Val24Ile) variant of HBB (Hemoglobin subunit beta)
V24I (p.Val24Ile) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- rs33929459
- ClinGen CA037454
- ClinVar RCV000016576
- ClinVar RCV000736024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- ESM-1b 1.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in Freiburg)
- UniProt: Pathogenic (in Freiburg)
- Structural context available
- Cited in: Haemoglobin alpha 2 beta 2 23Val----Ile produced in Escherichia coli facilitates Hb S polymerization. (PMID 2189492)
- Cited in: Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in… (PMID 3467311)