A137V (p.Ala137Val) variant of SATB2 (DNA-binding protein SATB2)
A137V (p.Ala137Val) 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 not provided; 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.
A137V (p.Ala137Val) variant details
- p.Ala137Val
- rs746240750
- ClinGen CA2046092
- ClinVar RCV001368566
- ClinVar RCV003883618
- Uncertain significance
- not provided; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)