G16R (p.Gly16Arg) variant of HBA1 (Hemoglobin subunit alpha)
G16R (p.Gly16Arg) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs281864811
- ClinGen CA276414371
- ClinVar RCV002481142
- gnomAD rs281864811
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.60
- SIFT 0.28
- MutPred 0.58
- ClinVar: Likely benign (not provided)
- EBI: Likely pathogenic (in Ottawa/Siam)
- UniProt: Likely pathogenic (in Ottawa/Siam)
- Structural context available
- Cited in: Hb Siam [alpha15(A13)Gly-->Arg] is a GGT-->CGT mutation in the alpha1-globin gene. (PMID 10722119)
- Cited in: Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an… (PMID 11939517)