L68M (p.Leu68Met) variant of CARD9 (Q9H257)
L68M (p.Leu68Met) in CARD9 (Q9H257) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
L68M (p.Leu68Met) variant details
- p.Leu68Met
- NCI-TCGA Cosmic COSV5373
- cosmic curated COSV53732
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.45
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available