G19S (p.Gly19Ser) variant of HBA1 (Hemoglobin subunit alpha)
G19S (p.Gly19Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- rs34504387
- ClinGen CA393994970
- ClinVar RCV000759780
- gnomAD rs34504387
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.47
- MetaLR 0.56
- MetaSVM -0.04
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in Handsworth)
- UniProt: Uncertain significance (in Handsworth)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available