A82T (p.Ala82Thr) variant of SATB2 (DNA-binding protein SATB2)
A82T (p.Ala82Thr) 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 0.54 / 1. The record also includes population frequency data and structural context.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- NCI-TCGA Cosmic COSV5348
- cosmic curated COSV53483
- TOPMed rs979695165
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available