R25Q (p.Arg25Gln) variant of NOTCH3 (Q9UM47)
R25Q (p.Arg25Gln) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- TOPMed rs2047007114
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.49
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available