P40T (p.Pro40Thr) variant of SATB2 (DNA-binding protein SATB2)
P40T (p.Pro40Thr) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Chromosome 2q32-q33 deletion syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- rs1191904885
- ClinGen CA350388446
- ClinVar RCV003741991
- Conflicting interpretations
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.80
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Chromosome 2q32-q33 deletion syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)