G26D (p.Gly26Asp) variant of HBB (Hemoglobin subunit beta)
G26D (p.Gly26Asp) 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 J (AUCKLAND). The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- rs35474880
- ClinGen CA124933
- ClinVar RCV000016399
- UniProt VAR 002905
- other
- HEMOGLOBIN J (AUCKLAND)
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.86
- MetaSVM 0.34
- CADD 24.50
- ClinVar: other (HEMOGLOBIN J (AUCKLAND))
- EBI: Benign (in J-Auckland)
- UniProt: Benign (in J-Auckland)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: A new unstable and low oxygen affinity hemoglobin variant: Hb J-Auckland [beta 25(B7)Gly----Asp]. (PMID 3654265)