L119M (p.Leu119Met) variant of CARD9 (Q9H257)
L119M (p.Leu119Met) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
L119M (p.Leu119Met) variant details
- p.Leu119Met
- gnomAD rs1402887021
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.77
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)