M142V (p.Met142Val) variant of SATB2 (DNA-binding protein SATB2)
M142V (p.Met142Val) 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 Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M142V (p.Met142Val) variant details
- p.Met142Val
- rs751779659
- ClinGen CA2046089
- ClinVar RCV001892193
- ExAC rs751779659
- Conflicting interpretations
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)