L4P (p.Leu4Pro) variant of NOTCH1 (P46531)
L4P (p.Leu4Pro) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of NOTCH1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs1260556792
- ClinGen CA375579906
- ClinVar RCV004534469
- TOPMed rs1260556792
- Uncertain significance
- NOTCH1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (NOTCH1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available