H143N (p.His143Asn) variant of SPTB (Spectrin beta chain, erythrocytic)
H143N (p.His143Asn) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
H143N (p.His143Asn) variant details
- p.His143Asn
- gnomAD rs1406317876
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- MetaLR 0.78
- MetaSVM 0.66
- CADD 24.00
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available