R6C (p.Arg6Cys) variant of NOTCH3 (Q9UM47)
R6C (p.Arg6Cys) in NOTCH3 (Q9UM47) is a missense change. 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.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- TOPMed rs1189616145
- gnomAD rs1189616145
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available