D45H (p.Asp45His) variant of NOTCH3 (Q9UM47)
D45H (p.Asp45His) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D45H (p.Asp45His) variant details
- p.Asp45His
- rs142031490
- ClinGen CA9263992
- ClinVar RCV000518589
- ClinVar RCV001787100
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.72
- CADD 24.80
- PolyPhen-2 0.22
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: CADASIL. (PMID 20301673)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)