P40A (p.Pro40Ala) variant of SATB2 (DNA-binding protein SATB2)
P40A (p.Pro40Ala) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- rs1191904885
- ClinGen CA350388445
- ClinVar RCV001034093
- gnomAD rs1191904885
- Likely benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.80
- PolyPhen-2 0.36
- SIFT 0.02
- ClinVar: Likely benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)