G25R (p.Gly25Arg) variant of HBB (Hemoglobin subunit beta)
G25R (p.Gly25Arg) 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 RIVERDALE-BRONX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs33972975
- ClinGen CA125128
- ClinVar RCV000016567
- UniProt VAR 002903
- other
- HEMOGLOBIN RIVERDALE-BRONX
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: other (HEMOGLOBIN RIVERDALE-BRONX)
- EBI: Benign (in Riverdale-Bronx)
- UniProt: Benign (in Riverdale-Bronx)
- Structural context available
- Cited in: Hemoglobin Riverdale-Bronx an unstable hemoglobin resulting from the substitution of arginine for glycine at helical… (PMID 5705748)