S72C (p.Ser72Cys) variant of SATB2 (DNA-binding protein SATB2)
S72C (p.Ser72Cys) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S72C (p.Ser72Cys) variant details
- p.Ser72Cys
- rs755238845
- ClinGen CA2046134
- ClinVar RCV003742187
- ClinVar RCV004661726
- Uncertain significance
- Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.06
- CADD 27.40
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)