P99R (p.Pro99Arg) variant of CARD9 (Q9H257)
P99R (p.Pro99Arg) 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 0.65 / 1. The record also includes population frequency data and structural context.
P99R (p.Pro99Arg) variant details
- p.Pro99Arg
- 1000Genomes rs200248442
- ExAC rs200248442
- gnomAD rs200248442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.56
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available