E2075G (p.Glu2075Gly) variant of SPTB (Spectrin beta chain, erythrocytic)
E2075G (p.Glu2075Gly) 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; Elliptocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
E2075G (p.Glu2075Gly) variant details
- p.Glu2075Gly
- rs1235889026
- ClinGen CA390039137
- ClinVar RCV001783806
- ClinVar RCV006249394
- Pathogenic/Likely pathogenic
- not provided; Elliptocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Elliptocytosis 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available