R75L (p.Arg75Leu) variant of NOTCH3 (Q9UM47)
R75L (p.Arg75Leu) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R75L (p.Arg75Leu) variant details
- p.Arg75Leu
- 1000Genomes rs145069047
- ESP rs145069047
- ExAC rs145069047
- TOPMed rs145069047
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.37
- CADD 11.90
- PolyPhen-2 0.02
- SIFT 0.72
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available