I45M (p.Ile45Met) variant of SPTB (Spectrin beta chain, erythrocytic)
I45M (p.Ile45Met) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
I45M (p.Ile45Met) variant details
- p.Ile45Met
- TOPMed rs1024996523
- gnomAD rs1024996523
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- MetaLR 0.37
- MetaSVM -0.23
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available