V31M (p.Val31Met) variant of SATB2 (DNA-binding protein SATB2)
V31M (p.Val31Met) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
V31M (p.Val31Met) variant details
- p.Val31Met
- rs2469069776
- ClinGen CA350388506
- ClinVar RCV003741898
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)