G23D (p.Gly23Asp) variant of HBA1 (Hemoglobin subunit alpha)
G23D (p.Gly23Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN J (MEDELLIN). The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs34608326
- ClinGen CA125777
- ClinVar RCV000017066
- UniProt VAR 002743
- other
- HEMOGLOBIN J (MEDELLIN)
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.23
- MetaLR 0.66
- MetaSVM -0.05
- SIFT 0.00
- MutPred 0.15
- ClinVar: other (HEMOGLOBIN J (MEDELLIN))
- EBI: Benign (in J-Medellin)
- UniProt: Benign (in J-Medellin)
- Structural context available