I19T (p.Ile19Thr) variant of SPTB (Spectrin beta chain, erythrocytic)
I19T (p.Ile19Thr) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- ExAC rs761373465
- gnomAD rs761373465
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- MetaLR 0.30
- MetaSVM -0.67
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available