S50R (p.Ser50Arg) variant of CARD9 (Q9H257)
S50R (p.Ser50Arg) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- ESP rs149255047
- ExAC rs149255047
- TOPMed rs149255047
- gnomAD rs149255047
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.21
- CADD 19.00
- PolyPhen-2 0.67
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)