M133T (p.Met133Thr) variant of SPTB (Spectrin beta chain, erythrocytic)
M133T (p.Met133Thr) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
M133T (p.Met133Thr) variant details
- p.Met133Thr
- Ensembl rs897283858
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- MetaLR 0.18
- MetaSVM -0.67
- CADD 26.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available