M33I (p.Met33Ile) variant of HBA1 (Hemoglobin subunit alpha)
M33I (p.Met33Ile) 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 Erythrocytosis, familial, 7; Hemoglobin H disease; alpha Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
M33I (p.Met33Ile) variant details
- p.Met33Ile
- rs1455943416
- ClinGen CA393995041
- ClinVar RCV004018219
- ClinVar RCV005006362
- Likely pathogenic
- Erythrocytosis, familial, 7; Hemoglobin H disease; alpha Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.79
- SIFT 0.00
- MutPred 0.88
- ClinVar: Likely pathogenic (Erythrocytosis, familial, 7; Hemoglobin H disease; alpha Thalass)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis… (PMID 25052315)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)