V24A (p.Val24Ala) variant of HBB (Hemoglobin subunit beta)
V24A (p.Val24Ala) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN ZOETERWOUDE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
V24A (p.Val24Ala) variant details
- p.Val24Ala
- rs33945546
- ClinGen CA125536
- ClinVar RCV000016885
- Ensembl rs33945546
- other
- HEMOGLOBIN ZOETERWOUDE
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- ESM-1b 1.00
- AlphaMissense 0.19
- ClinVar: other (HEMOGLOBIN ZOETERWOUDE)
- EBI: Variant of uncertain significance (in Freiburg)
- UniProt: Uncertain significance (in Freiburg)
- Structural context available
- Cited in: Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family. (PMID 12930401)