G148S (p.Gly148Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
G148S (p.Gly148Ser) 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.
G148S (p.Gly148Ser) variant details
- p.Gly148Ser
- gnomAD rs1460952313
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- MetaLR 0.47
- MetaSVM -0.01
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available