V53M (p.Val53Met) variant of NOTCH1 (P46531)
V53M (p.Val53Met) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adams-Oliver syndrome 5; not provided; Familial thoracic aortic aneurysm and aor. 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.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs757497167
- ClinGen CA5342237
- NCI-TCGA Cosmic COSV5305
- ClinVar RCV000477441
- Conflicting interpretations
- Adams-Oliver syndrome 5; not provided; Familial thoracic aortic aneurysm and aor
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 21.10
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Adams-Oliver syndrome 5; not provided; Familial thoracic aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.2e-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)