A111V (p.Ala111Val) variant of SATB2 (DNA-binding protein SATB2)
A111V (p.Ala111Val) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chromosome 2q32-q33 deletion syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A111V (p.Ala111Val) variant details
- p.Ala111Val
- rs1376331026
- ClinGen CA350386639
- NCI-TCGA Cosmic COSV5348
- cosmic curated COSV53483
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.77
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)