L2032P (p.Leu2032Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
L2032P (p.Leu2032Pro) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spherocytosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
L2032P (p.Leu2032Pro) variant details
- p.Leu2032Pro
- rs1555366607
- ClinGen CA390039437
- ClinVar RCV000625738
- Ensembl rs1555366607
- Pathogenic
- Hereditary spherocytosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary spherocytosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. (PMID 22055020)