R29Q (p.Arg29Gln) variant of NOTCH2 (Q04721)
R29Q (p.Arg29Gln) in NOTCH2 (Q04721) 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.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- TOPMed rs1654028328
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.09
- CADD 22.00
- PolyPhen-2 0.09
- SIFT 0.57
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available