P15R (p.Pro15Arg) variant of NOTCH1 (P46531)
P15R (p.Pro15Arg) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- rs2540494904
- ClinGen CA375579809
- ClinVar RCV003587555
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 20.40
- PolyPhen-2 0.08
- SIFT 0.47
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available