I150T (p.Ile150Thr) variant of SPTB (Spectrin beta chain, erythrocytic)
I150T (p.Ile150Thr) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
I150T (p.Ile150Thr) variant details
- p.Ile150Thr
- Ensembl rs2082929761
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.48
- MetaSVM 0.09
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available