M142I (p.Met142Ile) variant of SATB2 (DNA-binding protein SATB2)
M142I (p.Met142Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M142I (p.Met142Ile) variant details
- p.Met142Ile
- rs764205432
- ClinGen CA2046088
- ClinVar RCV001221058
- ClinVar RCV003438723
- Conflicting interpretations
- Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- 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)