P3R (p.Pro3Arg) variant of NOTCH1 (P46531)
P3R (p.Pro3Arg) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- TOPMed rs1229360786
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available