S35I (p.Ser35Ile) variant of SPTB (Spectrin beta chain, erythrocytic)
S35I (p.Ser35Ile) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
S35I (p.Ser35Ile) variant details
- p.Ser35Ile
- TOPMed rs2083320412
- gnomAD rs2083320412
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- MetaLR 0.42
- MetaSVM -0.07
- CADD 26.90
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available