D28N (p.Asp28Asn) variant of SPTB (Spectrin beta chain, erythrocytic)
D28N (p.Asp28Asn) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- cosmic curated COSV67630
- ESP rs369115877
- ExAC rs369115877
- TOPMed rs369115877
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- MetaLR 0.24
- MetaSVM -0.73
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available