A54T (p.Ala54Thr) variant of SPTBN4 (Q9H254)
A54T (p.Ala54Thr) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs1166037726
- ClinGen CA405888442
- ClinVar RCV002469524
- TOPMed rs1166037726
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available