S50N (p.Ser50Asn) variant of CARD9 (Q9H257)
S50N (p.Ser50Asn) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- gnomAD rs1414848495
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.11
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 6e-05)