W23R (p.Trp23Arg) variant of SPTB (Spectrin beta chain, erythrocytic)
W23R (p.Trp23Arg) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
W23R (p.Trp23Arg) variant details
- p.Trp23Arg
- gnomAD rs1302184341
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- MetaLR 0.51
- MetaSVM 0.15
- CADD 28.70
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available