R70L (p.Arg70Leu) variant of CARD9 (Q9H257)
R70L (p.Arg70Leu) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in IMD103. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
R70L (p.Arg70Leu) variant details
- p.Arg70Leu
- ESP rs376793464
- ExAC rs376793464
- TOPMed rs376793464
- gnomAD rs376793464
- Uncertain significance
- in IMD103
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.34
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.05
- EBI: Variant of uncertain significance (in IMD103)
- UniProt: Uncertain significance (in IMD103)
- Population evidence available