R216Q (p.Arg216Gln) variant of SPTB (Spectrin beta chain, erythrocytic)
R216Q (p.Arg216Gln) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SPTB-related disorder; not provided; Hereditary spherocytosis type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data.
R216Q (p.Arg216Gln) variant details
- p.Arg216Gln
- rs1555371769
- ClinGen CA390031881
- cosmic curated COSV10972
- ClinVar RCV000655908
- Pathogenic/Likely pathogenic
- SPTB-related disorder; not provided; Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- MetaLR 0.93
- MetaSVM 1.06
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (SPTB-related disorder; not provided; Hereditary spherocytosis ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available