N48T (p.Asn48Thr) variant of SATB2 (DNA-binding protein SATB2)
N48T (p.Asn48Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes published literature and structural context.
N48T (p.Asn48Thr) variant details
- p.Asn48Thr
- rs1467878282
- ClinGen CA350388393
- ClinVar RCV003741795
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.12
- MetaSVM -0.88
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)