N9T (p.Asn9Thr) variant of SPTB (Spectrin beta chain, erythrocytic)
N9T (p.Asn9Thr) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Elliptocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
N9T (p.Asn9Thr) variant details
- p.Asn9Thr
- rs138437526
- ClinGen CA7231564
- ClinVar RCV001329812
- ClinVar RCV001753775
- Conflicting interpretations
- not provided; Elliptocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- MetaLR 0.30
- MetaSVM -0.55
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Elliptocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available