H67Q (p.His67Gln) variant of SPTB (Spectrin beta chain, erythrocytic)
H67Q (p.His67Gln) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
H67Q (p.His67Gln) variant details
- p.His67Gln
- ExAC rs760171132
- gnomAD rs760171132
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- MetaLR 0.26
- MetaSVM -0.77
- CADD 23.20
- PolyPhen-2 0.63
- SIFT 0.04
- Population evidence available