L46M (p.Leu46Met) variant of CARD11 (Q9BXL7)
L46M (p.Leu46Met) in CARD11 (Q9BXL7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L46M (p.Leu46Met) variant details
- p.Leu46Met
- ESP rs149740754
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.52
- AlphaMissense 0.89
- MetaLR 0.42
- MetaSVM -0.09
- CADD 25.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available