I19M (p.Ile19Met) variant of SPTB (Spectrin beta chain, erythrocytic)
I19M (p.Ile19Met) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
I19M (p.Ile19Met) variant details
- p.Ile19Met
- gnomAD rs1225208646
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- MetaLR 0.36
- MetaSVM -0.33
- CADD 23.30
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available