K80R (p.Lys80Arg) variant of SPTB (Spectrin beta chain, erythrocytic)
K80R (p.Lys80Arg) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
K80R (p.Lys80Arg) variant details
- p.Lys80Arg
- gnomAD rs2082955374
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- MetaLR 0.53
- MetaSVM -0.52
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available