M1I (p.Met1Ile) variant of HBB (Hemoglobin subunit beta)
M1I (p.Met1Ile) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of beta Thalassemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs33930702
- ClinGen CA125383
- ClinVar RCV000016783
- ClinVar RCV000506641
- Likely pathogenic
- beta Thalassemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- ESM-1b 1.00
- AlphaMissense 0.67
- ClinVar: Likely pathogenic (beta Thalassemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene. (PMID 1301952)
- Cited in: Hb Karlskoga or alpha 2 beta (2)21(B3) Asp-->His: a new slow-moving variant found in Sweden. (PMID 8330972)