V35F (p.Val35Phe) variant of HBB (Hemoglobin subunit beta)
V35F (p.Val35Phe) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
V35F (p.Val35Phe) variant details
- p.Val35Phe
- rs1141387
- ClinGen CA125104
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- Likely pathogenic
- Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- ESM-1b 1.00
- AlphaMissense 0.88
- ClinVar: Likely pathogenic (Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia)
- EBI: Pathogenic (in Pitie-Salpetriere)
- UniProt: Pathogenic (in Pitie-Salpetriere)
- Structural context available
- Cited in: Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with… (PMID 7417488)
- Cited in: Beta-Thalassemia. (PMID 20301599)