P101L (p.Pro101Leu) variant of HBB (Hemoglobin subunit beta)
P101L (p.Pro101Leu) 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 Erythrocytosis, familial, 6; HEMOGLOBIN BRIGHAM. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
P101L (p.Pro101Leu) variant details
- p.Pro101Leu
- rs33965000
- ClinGen CA124760
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- Pathogenic; other
- Erythrocytosis, familial, 6; HEMOGLOBIN BRIGHAM
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 6; HEMOGLOBIN BRIGHAM)
- EBI: Pathogenic (in Brigham)
- UniProt: Pathogenic (in Brigham)
- Structural context available
- Cited in: Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis. (PMID 4719677)