P7S (p.Pro7Ser) variant of NOTCH1 (P46531)
P7S (p.Pro7Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. 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.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs1397523469
- ClinGen CA375579885
- ClinVar RCV000802034
- ClinVar RCV002270917
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 22.50
- PolyPhen-2 0.24
- SIFT 0.48
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- 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)