R148P (p.Arg148Pro) variant of CARD9 (Q9H257)
R148P (p.Arg148Pro) 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 0.33 / 1. The record also includes population frequency data.
R148P (p.Arg148Pro) variant details
- p.Arg148Pro
- ExAC rs757627986
- TOPMed rs757627986
- gnomAD rs757627986
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.14
- CADD 23.90
- PolyPhen-2 0.73
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)