S12N (p.Ser12Asn) variant of CARD9 (Q9H257)
S12N (p.Ser12Asn) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; Predisposition to invasive fungal disease due to CARD9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and published literature.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- rs4077515
- ClinGen CA5333266
- cosmic curated COSV53731
- ClinVar RCV000408113
- Likely benign
- not specified; Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.01
- CADD 1.43
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Likely benign (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Benign (in dbSNP:rs4077515)
- UniProt: Benign (in dbSNP:rs4077515)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Cited in: CARD9 is a novel caspase recruitment domain-containing protein that interacts with BCL10/CLAP and activates NF-kappa B. (PMID 11053425)
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)