P120S (p.Pro120Ser) variant of HBA1 (Hemoglobin subunit alpha)
P120S (p.Pro120Ser) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemoglobin H disease; Erythrocytosis, familial, 7; Heinz body anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P120S (p.Pro120Ser) variant details
- p.Pro120Ser
- rs1262943621
- ClinGen CA393994519
- ClinVar RCV000985722
- gnomAD rs1262943621
- Pathogenic
- Hemoglobin H disease; Erythrocytosis, familial, 7; Heinz body anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.76
- MetaLR 0.81
- MetaSVM 0.62
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Pathogenic (Hemoglobin H disease; Erythrocytosis, familial, 7; Heinz body an)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available