R70Q (p.Arg70Gln) variant of SPTB (Spectrin beta chain, erythrocytic)
R70Q (p.Arg70Gln) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
R70Q (p.Arg70Gln) variant details
- p.Arg70Gln
- gnomAD rs1293036930
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- MetaLR 0.16
- MetaSVM -0.91
- CADD 22.40
- PolyPhen-2 0.11
- SIFT 0.02
- Population evidence available