P3L (p.Pro3Leu) variant of NOTCH1 (P46531)
P3L (p.Pro3Leu) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar 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 0.51 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- TOPMed rs1229360786
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.1e-05)
- Structural context available