G25V (p.Gly25Val) variant of HBB (Hemoglobin subunit beta)
G25V (p.Gly25Val) 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 SAVANNAH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs33968721
- ClinGen CA125151
- ClinVar RCV000016587
- UniProt VAR 002904
- other
- HEMOGLOBIN SAVANNAH
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: other (HEMOGLOBIN SAVANNAH)
- EBI: Benign (in Savannah)
- UniProt: Benign (in Savannah)
- Structural context available
- Cited in: Hemoglobin Savannah (B6(24) beta-glycine is greater than valine): an unstable variant causing anemia with inclusion… (PMID 5545125)