I45L (p.Ile45Leu) variant of SPTB (Spectrin beta chain, erythrocytic)
I45L (p.Ile45Leu) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
I45L (p.Ile45Leu) variant details
- p.Ile45Leu
- ExAC rs768103906
- gnomAD rs768103906
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- MetaLR 0.30
- MetaSVM -0.40
- CADD 25.30
- PolyPhen-2 0.38
- SIFT 0.03
- Population evidence available