G16S (p.Gly16Ser) variant of HBA1 (Hemoglobin subunit alpha)
G16S (p.Gly16Ser) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in Ottawa/Siam. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- rs281864811
- ClinGen CA393993043
- ClinVar RCV003236442
- ClinVar RCV006451375
- Likely pathogenic
- in Ottawa/Siam
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.41
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.60
- CADD 16.60
- PolyPhen-2 0.01
- EBI: Likely pathogenic (in Ottawa/Siam)
- UniProt: Likely pathogenic (in Ottawa/Siam)
- Most common in the East Asian population (allele frequency 0.00042)
- Structural context available