S5R (p.Ser5Arg) variant of SATB2 (DNA-binding protein SATB2)
S5R (p.Ser5Arg) 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 Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs2469070015
- ClinGen CA350388672
- ClinVar RCV003741747
- cosmic curated COSV53487
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)