R61W (p.Arg61Trp) variant of NOTCH3 (Q9UM47)
R61W (p.Arg61Trp) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- rs200595885
- ClinGen CA9263976
- ClinVar RCV001859429
- ClinVar RCV005412273
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.77
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00045)
- 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)