S72T (p.Ser72Thr) variant of SATB2 (DNA-binding protein SATB2)
S72T (p.Ser72Thr) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S72T (p.Ser72Thr) variant details
- p.Ser72Thr
- ExAC rs753249521
- TOPMed rs753249521
- gnomAD rs753249521
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 23.40
- PolyPhen-2 0.45
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available