Q165* (p.Gln165Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
Q165* (p.Gln165Ter) in SPTB (Spectrin beta chain, erythrocytic) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1.
Q165* (p.Gln165Ter) variant details
- p.Gln165Ter
- rs2139632398
- ClinGen CA390032935
- ClinVar RCV002291034
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.05
- MetaLR 0.03
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.05
- EBI: Pathogenic
- UniProt: Pathogenic