H144Q (p.His144Gln) variant of HBB (Hemoglobin subunit beta)
H144Q (p.His144Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Erythrocytosis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H144Q (p.His144Gln) variant details
- p.His144Gln
- rs36020563
- NCI-TCGA Cosmic COSV5894
- cosmic curated COSV58942
- 1000Genomes rs36020563
- Pathogenic
- Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- ESM-1b 0.24
- AlphaMissense 0.49
- ClinVar: Pathogenic (Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Little Rock)
- UniProt: Pathogenic (in Little Rock)
- Population evidence available
- Structural context available
- Cited in: A new case of Hb Little Rock [beta 143(H21)His----Gln], a high affinity variant. Study during pregnancy. (PMID 3623972)
- Cited in: High oxygen affinity variant of haemoglobin Little Rock with unique properties. (PMID 4514629)