A28V (p.Ala28Val) variant of HBB (Hemoglobin subunit beta)
A28V (p.Ala28Val) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs33954632
- ClinGen CA124879
- ClinVar RCV000016364
- ClinVar RCV003441719
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.78
- ESM-1b 0.73
- AlphaMissense 0.43
- MetaLR 0.71
- MetaSVM 0.49
- CADD 26.40
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in Grange-blanche)
- UniProt: Pathogenic (in Grange-blanche)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val], a new variant with normal expression and increased affinity for… (PMID 3666141)