T104S (p.Thr104Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
T104S (p.Thr104Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
T104S (p.Thr104Ser) variant details
- p.Thr104Ser
- ExAC rs761715254
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- MetaLR 0.83
- MetaSVM 0.86
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available