L130P (p.Leu130Pro) variant of HBA1 (Hemoglobin subunit alpha)
L130P (p.Leu130Pro) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methemoglobinemia, alpha type; Erythrocytosis, familial, 7; Hemoglobin H disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
L130P (p.Leu130Pro) variant details
- p.Leu130Pro
- rs35993655
- ClinGen CA125979
- ClinVar RCV000017211
- ClinVar RCV000756223
- Likely pathogenic
- Methemoglobinemia, alpha type; Erythrocytosis, familial, 7; Hemoglobin H disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.90
- SIFT 0.00
- ClinVar: Likely pathogenic (Methemoglobinemia, alpha type; Erythrocytosis, familial, 7; Hemo)
- EBI: Likely pathogenic (in Tunis-Bizerte)
- UniProt: Likely pathogenic (in Tunis-Bizerte)
- Population evidence available
- Structural context available
- Cited in: Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype. (PMID 7786798)
- Cited in: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis… (PMID 25052315)