R18K (p.Arg18Lys) variant of SPTB (Spectrin beta chain, erythrocytic)
R18K (p.Arg18Lys) 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.
R18K (p.Arg18Lys) variant details
- p.Arg18Lys
- cosmic curated COSV10532
- ExAC rs774891298
- gnomAD rs774891298
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- MetaLR 0.13
- MetaSVM -0.90
- CADD 21.70
- PolyPhen-2 0.11
- SIFT 0.03
- Population evidence available