L29M (p.Leu29Met) variant of HBB (Hemoglobin subunit beta)
L29M (p.Leu29Met) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN CHILE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
L29M (p.Leu29Met) variant details
- p.Leu29Met
- rs33958088
- ClinGen CA125460
- ClinVar RCV000016835
- TOPMed rs33958088
- other
- HEMOGLOBIN CHILE
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- ESM-1b 0.53
- AlphaMissense 0.62
- ClinVar: other (HEMOGLOBIN CHILE)
- EBI: Likely benign (in St Louis)
- UniProt: Likely benign (in St Louis)
- Structural context available
- Cited in: Hb Chile [beta28(B10)Leu-->Met]: an unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or… (PMID 10335980)