P48L (p.Pro48Leu) variant of NOTCH3 (Q9UM47)
P48L (p.Pro48Leu) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs1362111590
- ClinGen CA404483413
- ClinVar RCV001913650
- TOPMed rs1362111590
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.64
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available