L29Q (p.Leu29Gln) variant of HBB (Hemoglobin subunit beta)
L29Q (p.Leu29Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN ST. LOUIS; Heinz body anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L29Q (p.Leu29Gln) variant details
- p.Leu29Gln
- rs33916412
- ClinGen CA125184
- ClinVar RCV000016611
- ClinVar RCV000016612
- Pathogenic; other
- HEMOGLOBIN ST. LOUIS; Heinz body anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic; other (HEMOGLOBIN ST. LOUIS; Heinz body anemia)
- EBI: Pathogenic (in St Louis)
- UniProt: Pathogenic (in St Louis)
- Structural context available
- Cited in: Functional and physicochemical studies of hemoglobin St. Louis beta 28 (B10) Leu replaced by Gln: a variant with ferric… (PMID 186485)
- Cited in: Hb Saint Louis or alpha 2 beta 2(28)(B10)Leu----Gln in a Czechoslovakian male. (PMID 3557999)