Q165H (p.Gln165His) variant of SPTB (Spectrin beta chain, erythrocytic)
Q165H (p.Gln165His) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
Q165H (p.Gln165His) variant details
- p.Gln165His
- gnomAD rs1413773421
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- MetaLR 0.11
- MetaSVM -0.97
- CADD 15.10
- SIFT 0.01
- Population evidence available