P22S (p.Pro22Ser) variant of NOTCH1 (P46531)
P22S (p.Pro22Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Adams-Oliver syndrome 5; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- rs114832250
- ClinGen CA161173
- ClinVar RCV000121673
- ClinVar RCV000232532
- Benign/Likely benign
- Adams-Oliver syndrome 5; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Benign/Likely benign (Adams-Oliver syndrome 5; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.12)
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic… (PMID 25173340)