V24F (p.Val24Phe) variant of HBB (Hemoglobin subunit beta)
V24F (p.Val24Phe) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Unstable hemoglobin disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V24F (p.Val24Phe) variant details
- p.Val24Phe
- rs33929459
- ClinGen CA125092
- cosmic curated COSV58941
- ClinVar RCV000016544
- Pathogenic
- Unstable hemoglobin disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.64
- MetaSVM -0.09
- CADD 20.90
- ClinVar: Pathogenic (Unstable hemoglobin disease)
- EBI: Pathogenic (in Palmerston North)
- UniProt: Pathogenic (in Palmerston North)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. (PMID 7161106)