G148D (p.Gly148Asp) variant of SPTB (Spectrin beta chain, erythrocytic)
G148D (p.Gly148Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1.
G148D (p.Gly148Asp) variant details
- p.Gly148Asp
- rs2082929857
- ClinGen CA390034446
- ClinVar RCV001812430
- Ensembl rs2082929857
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.42
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance