A69T (p.Ala69Thr) variant of SPTB (Spectrin beta chain, erythrocytic)
A69T (p.Ala69Thr) 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 0.71 / 1. The record also includes population frequency data.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- rs1204232304
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10107
- TOPMed rs1204232304
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- MetaLR 0.83
- MetaSVM 0.78
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available