L83V (p.Leu83Val) variant of CARD9 (Q9H257)
L83V (p.Leu83Val) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L83V (p.Leu83Val) variant details
- p.Leu83Val
- TOPMed rs1293607739
- gnomAD rs1293607739
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.48
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available