V24G (p.Val24Gly) variant of HBB (Hemoglobin subunit beta)
V24G (p.Val24Gly) 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 MIYASHIRO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
V24G (p.Val24Gly) variant details
- p.Val24Gly
- rs33945546
- ClinGen CA125034
- ClinVar RCV000016496
- UniProt VAR 002901
- other
- HEMOGLOBIN MIYASHIRO
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- ESM-1b 1.00
- AlphaMissense 0.48
- ClinVar: other (HEMOGLOBIN MIYASHIRO)
- EBI: Benign (in Miyashiro)
- UniProt: Benign (in Miyashiro)
- Structural context available
- Cited in: Purification and properties of hemoglobin Miyashiro. (PMID 6500989)
- Cited in: Hemoglobin Miyashiro (beta 23[B5] val substituting for gly) an electrophoretically silent variant discovered by the… (PMID 7338468)