V55A (p.Val55Ala) variant of SATB2 (DNA-binding protein SATB2)
V55A (p.Val55Ala) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- rs1226310700
- ClinGen CA350388349
- ClinVar RCV003740997
- TOPMed rs1226310700
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)