R29H (p.Arg29His) variant of CARD9 (Q9H257)
R29H (p.Arg29His) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Predisposition to invasive fungal disease due to CARD9 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs201587695
- ClinGen CA5333253
- cosmic curated COSV53731
- ClinVar RCV001216268
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.25
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)