G16C (p.Gly16Cys) variant of HBA1 (Hemoglobin subunit alpha)
G16C (p.Gly16Cys) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- rs35816645
- ClinVar RCV004586324
- gnomAD rs35816645
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM -0.47
- SIFT 0.28
- MutPred 0.58
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in Ottawa/Siam)
- UniProt: Uncertain significance (in Ottawa/Siam)
- Population evidence available
- Structural context available