S5N (p.Ser5Asn) variant of SATB2 (DNA-binding protein SATB2)
S5N (p.Ser5Asn) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- rs2469070022
- ClinGen CA350388676
- ClinVar RCV003582002
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.14
- ESM-1b 0.63
- AlphaMissense 0.17
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.16
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)