L137V (p.Leu137Val) variant of CARD9 (Q9H257)
L137V (p.Leu137Val) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
L137V (p.Leu137Val) variant details
- p.Leu137Val
- TOPMed rs1333436987
- gnomAD rs1333436987
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.14
- CADD 18.90
- PolyPhen-2 0.10
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)