R75W (p.Arg75Trp) variant of NOTCH3 (Q9UM47)
R75W (p.Arg75Trp) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R75W (p.Arg75Trp) variant details
- p.Arg75Trp
- rs762164861
- ClinGen CA9263950
- ClinVar RCV001663841
- ClinVar RCV001859430
- Benign/Likely benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.49
- CADD 14.90
- PolyPhen-2 0.94
- SIFT 0.16
- ClinVar: Benign/Likely benign (not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available