P8Q (p.Pro8Gln) variant of SATB2 (DNA-binding protein SATB2)
P8Q (p.Pro8Gln) 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 Chromosome 2q32-q33 deletion syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P8Q (p.Pro8Gln) variant details
- p.Pro8Gln
- rs2105957352
- ClinGen CA350388653
- ClinVar RCV001774069
- ClinVar RCV005094982
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.38
- ESM-1b 0.67
- AlphaMissense 0.29
- CADD 27.80
- PolyPhen-2 0.48
- SIFT 0.02
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)