R70P (p.Arg70Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
R70P (p.Arg70Pro) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
R70P (p.Arg70Pro) variant details
- p.Arg70Pro
- gnomAD rs1293036930
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- MetaLR 0.17
- MetaSVM -0.85
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available