L28P (p.Leu28Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
L28P (p.Leu28Pro) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- rs2496819377
- ClinGen CA382976012
- ClinVar RCV003539540
- ClinVar RCV005412561
- Uncertain significance
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.46
- AlphaMissense 0.28
- MetaLR 0.27
- MetaSVM -0.68
- CADD 27.90
- PolyPhen-2 0.09
- ClinVar: Uncertain significance (RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.12