P42R (p.Pro42Arg) variant of NOTCH3 (Q9UM47)
P42R (p.Pro42Arg) in NOTCH3 (Q9UM47) 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.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- Ensembl rs2046978842
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.35
- CADD 22.30
- PolyPhen-2 0.20
- SIFT 0.23
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available