R13C (p.Arg13Cys) variant of NOTCH3 (Q9UM47)
R13C (p.Arg13Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs2512676498
- ClinGen CA404483629
- ClinVar RCV003011721
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.33
- CADD 20.90
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available