M1K (p.Met1Lys) variant of HBB (Hemoglobin subunit beta)
M1K (p.Met1Lys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs33941849
- ClinGen CA217115650
- ClinVar RCV000588257
- ClinVar RCV000985744
- Pathogenic/Likely pathogenic
- not provided; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- ESM-1b 1.00
- AlphaMissense 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; beta Thalassemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)