L102P (p.Leu102Pro) variant of CARD11 (Q9BXL7)
L102P (p.Leu102Pro) 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 0.56 / 1. The record also includes population frequency data and structural context.
L102P (p.Leu102Pro) variant details
- p.Leu102Pro
- gnomAD rs1424722453
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.59
- AlphaMissense 0.99
- MetaLR 0.21
- MetaSVM -0.73
- CADD 27.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available