Q57H (p.Gln57His) variant of NOTCH3 (Q9UM47)
Q57H (p.Gln57His) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q57H (p.Gln57His) variant details
- p.Gln57His
- rs755917588
- NCI-TCGA Cosmic COSV5463
- ExAC rs755917588
- TOPMed rs755917588
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 0.65
- SIFT 0.14
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: CADASIL. (PMID 20301673)