L29R (p.Leu29Arg) variant of HBB (Hemoglobin subunit beta)
L29R (p.Leu29Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN CHESTERFIELD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
L29R (p.Leu29Arg) variant details
- p.Leu29Arg
- rs33916412
- ClinGen CA125352
- ClinVar RCV000016751
- Ensembl rs33916412
- other
- HEMOGLOBIN CHESTERFIELD
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 0.95
- ClinVar: other (HEMOGLOBIN CHESTERFIELD)
- EBI: Pathogenic (in St Louis)
- UniProt: Pathogenic (in St Louis)
- Structural context available
- Cited in: Hemoglobin Chesterfield (beta 28 Leu----Arg) produces the phenotype of inclusion body beta thalassemia. (PMID 1675132)