L107Q (p.Leu107Gln) variant of HBB (Hemoglobin subunit beta)
L107Q (p.Leu107Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of METHEMOGLOBINEMIA, BETA TYPE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L107Q (p.Leu107Gln) variant details
- p.Leu107Gln
- rs33941844
- ClinGen CA125215
- ClinVar RCV000016630
- Ensembl rs33941844
- Pathogenic
- METHEMOGLOBINEMIA, BETA TYPE
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic (METHEMOGLOBINEMIA, BETA TYPE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Structural and functional characteristics of Hb Tübingen: beta 106 (G 8) Leu leads to Gln. (PMID 1278400)
- Cited in: Hb Tübingen [alpha 2 beta (2)106(G8)Leu-->Gln] in a Belgian Family. (PMID 8226097)