S2019P (p.Ser2019Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
S2019P (p.Ser2019Pro) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary spherocytosis type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
S2019P (p.Ser2019Pro) variant details
- p.Ser2019Pro
- rs121918648
- ClinGen CA122740
- ClinVar RCV000013688
- ClinVar RCV001004906
- Pathogenic/Likely pathogenic
- not provided; Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 19.50
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spherocytosis type 2)
- EBI: Pathogenic (in EL3)
- UniProt: Pathogenic (in EL3)
- Population evidence available
- Cited in: Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. (PMID 7883966)
- Cited in: Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the… (PMID 1975598)