R18W (p.Arg18Trp) variant of SPTB (Spectrin beta chain, erythrocytic)
R18W (p.Arg18Trp) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- ExAC rs759868093
- gnomAD rs759868093
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- MetaLR 0.26
- MetaSVM -0.50
- CADD 27.50
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available