R88W (p.Arg88Trp) variant of SATB2 (DNA-binding protein SATB2)
R88W (p.Arg88Trp) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R88W (p.Arg88Trp) variant details
- p.Arg88Trp
- NCI-TCGA Cosmic COSV5348
- cosmic curated COSV53484
- NCI-TCGA Cosmic COSV9961
- Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Chromosome 2q32-q33 deletion syndrome)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available