H143Q (p.His143Gln) variant of SPTB (Spectrin beta chain, erythrocytic)
H143Q (p.His143Gln) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
H143Q (p.His143Gln) variant details
- p.His143Gln
- TOPMed rs1158489255
- gnomAD rs1158489255
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- MetaLR 0.72
- MetaSVM 0.53
- CADD 22.60
- PolyPhen-2 0.55
- SIFT 0.01
- Population evidence available