R170S (p.Arg170Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
R170S (p.Arg170Ser) 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.
R170S (p.Arg170Ser) variant details
- p.Arg170Ser
- ESP rs370778123
- TOPMed rs370778123
- gnomAD rs370778123
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- MetaLR 0.09
- MetaSVM -0.99
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available