R16P (p.Arg16Pro) variant of SATB2 (DNA-binding protein SATB2)
R16P (p.Arg16Pro) 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.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- rs1295030903
- ClinGen CA350388600
- ClinVar RCV003832916
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.90
- PolyPhen-2 0.42
- SIFT 0.05
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)