M1K (p.Met1Lys) variant of HBA1 (Hemoglobin subunit alpha)
M1K (p.Met1Lys) 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 alpha Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1316527998
- ClinGen CA393994888
- ClinVar RCV003317778
- Likely pathogenic
- alpha Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- MetaLR 0.82
- MetaSVM 0.74
- SIFT 0.00
- MutPred 0.98
- ClinVar: Likely pathogenic (alpha Thalassemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Alpha-Thalassemia. (PMID 20301608)