A119S (p.Ala119Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
A119S (p.Ala119Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
A119S (p.Ala119Ser) variant details
- p.Ala119Ser
- gnomAD rs1278859505
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- MetaLR 0.34
- MetaSVM -0.46
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available