T151M (p.Thr151Met) variant of SATB2 (DNA-binding protein SATB2)
T151M (p.Thr151Met) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T151M (p.Thr151Met) variant details
- p.Thr151Met
- rs1414878673
- ClinGen CA350389071
- cosmic curated COSV99613
- ClinVar RCV002755823
- Uncertain significance
- Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.77
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)