I19L (p.Ile19Leu) variant of SPTB (Spectrin beta chain, erythrocytic)
I19L (p.Ile19Leu) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
I19L (p.Ile19Leu) variant details
- p.Ile19Leu
- ExAC rs771406838
- TOPMed rs771406838
- gnomAD rs771406838
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- MetaLR 0.19
- MetaSVM -0.85
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available