A82S (p.Ala82Ser) variant of SATB2 (DNA-binding protein SATB2)
A82S (p.Ala82Ser) 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 SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; Inborn genetic di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A82S (p.Ala82Ser) variant details
- p.Ala82Ser
- rs979695165
- ClinGen CA64291164
- ClinVar RCV002734567
- ClinVar RCV003741328
- Uncertain significance
- SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; Inborn genetic di
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; I)
- 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)