R38K (p.Arg38Lys) variant of SPTB (Spectrin beta chain, erythrocytic)
R38K (p.Arg38Lys) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
R38K (p.Arg38Lys) variant details
- p.Arg38Lys
- Ensembl rs2083320304
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- MetaLR 0.15
- MetaSVM -0.88
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available