A69S (p.Ala69Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
A69S (p.Ala69Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
A69S (p.Ala69Ser) variant details
- p.Ala69Ser
- rs1204232304
- NCI-TCGA Cosmic COSV1010
- TOPMed rs1204232304
- gnomAD rs1204232304
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- MetaLR 0.64
- MetaSVM 0.04
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available