S72P (p.Ser72Pro) variant of SATB2 (DNA-binding protein SATB2)
S72P (p.Ser72Pro) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S72P (p.Ser72Pro) variant details
- p.Ser72Pro
- rs753249521
- ClinGen CA2046135
- ClinVar RCV003054715
- ClinVar RCV004960918
- Uncertain significance
- Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)