S72A (p.Ser72Ala) variant of ZFHX3 (Zinc finger homeobox protein 3)
S72A (p.Ser72Ala) in ZFHX3 (Zinc finger homeobox protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified. The record also includes variant effect predictions, population frequency data, and published literature.
S72A (p.Ser72Ala) variant details
- p.Ser72Ala
- rs7193297
- ClinGen CA8165062
- cosmic curated COSV51707
- ClinVar RCV003984575
- Benign
- not specified
- Missense
- REVEL 0.21
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Benign (not specified)
- EBI: Benign (in dbSNP:rs7193297)
- UniProt: Benign (in dbSNP:rs7193297)
- Population evidence available
- Cited in: Cloning and characterization of an ATBF1 isoform that expresses in a neuronal differentiation-dependent manner. (PMID 7592926)