Y130C (p.Tyr130Cys) variant of SATB2 (DNA-binding protein SATB2)
Y130C (p.Tyr130Cys) 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 not provided; Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Y130C (p.Tyr130Cys) variant details
- p.Tyr130Cys
- rs372822699
- ClinGen CA2046097
- ClinVar RCV000997640
- ClinVar RCV003741243
- Conflicting interpretations
- not provided; Inborn genetic diseases; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Chromosome 2q32-q33 delet)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)