Q57R (p.Gln57Arg) variant of NOTCH3 (Q9UM47)
Q57R (p.Gln57Arg) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q57R (p.Gln57Arg) variant details
- p.Gln57Arg
- TOPMed rs2046978227
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.50
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.52
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available