L80P (p.Leu80Pro) variant of CARD11 (Q9BXL7)
L80P (p.Leu80Pro) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
L80P (p.Leu80Pro) variant details
- p.Leu80Pro
- rs1780440992
- ClinGen CA366647613
- ClinVar RCV001091306
- Ensembl rs1780440992
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 1.00
- MetaLR 0.26
- MetaSVM -0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available