P52S (p.Pro52Ser) variant of CARD9 (Q9H257)
P52S (p.Pro52Ser) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- gnomAD rs1265712771
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.34
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)