S35N (p.Ser35Asn) variant of SPTB (Spectrin beta chain, erythrocytic)
S35N (p.Ser35Asn) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- TOPMed rs2083320412
- gnomAD rs2083320412
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- MetaLR 0.38
- MetaSVM -0.17
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available