A50S (p.Ala50Ser) variant of SATB2 (DNA-binding protein SATB2)
A50S (p.Ala50Ser) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- rs2469069641
- ClinGen CA350388380
- ClinVar RCV003024500
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)