K118R (p.Lys118Arg) variant of SPTB (Spectrin beta chain, erythrocytic)
K118R (p.Lys118Arg) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
K118R (p.Lys118Arg) variant details
- p.Lys118Arg
- ExAC rs778131856
- gnomAD rs778131856
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- MetaLR 0.84
- MetaSVM 0.78
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available