R399P (p.Arg399Pro) variant of SATB2 (DNA-binding protein SATB2)
R399P (p.Arg399Pro) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes experimental measurements, published literature, and structural context.
R399P (p.Arg399Pro) variant details
- p.Arg399Pro
- rs1057518190
- ClinGen CA350386545
- ClinVar RCV001784357
- ClinVar RCV002316085
- Conflicting interpretations
- Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.0205
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)