L25P (p.Leu25Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
L25P (p.Leu25Pro) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- gnomAD 11-119206491-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.47
- AlphaMissense 0.25
- MetaLR 0.42
- MetaSVM -0.13
- CADD 24.50
- PolyPhen-2 0.96
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.417
- Literature evidence available