G71S (p.Gly71Ser) variant of SATB2 (DNA-binding protein SATB2)
G71S (p.Gly71Ser) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- rs756865617
- ClinGen CA2046136
- cosmic curated COSV99613
- ClinVar RCV000818908
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.06
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)