P34R (p.Pro34Arg) variant of NOTCH2 (Q04721)
P34R (p.Pro34Arg) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD rs1553210721
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.74
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available