R29L (p.Arg29Leu) variant of CARD9 (Q9H257)
R29L (p.Arg29Leu) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- 1000Genomes rs201587695
- ESP rs201587695
- ExAC rs201587695
- TOPMed rs201587695
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.36
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)