G169S (p.Gly169Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
G169S (p.Gly169Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
G169S (p.Gly169Ser) variant details
- p.Gly169Ser
- Ensembl rs2082901524
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- MetaLR 0.08
- MetaSVM -1.05
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available