S138R (p.Ser138Arg) variant of CARD9 (Q9H257)
S138R (p.Ser138Arg) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Predisposition to invasive fungal disease due to CARD9 deficiency; Inborn geneti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
S138R (p.Ser138Arg) variant details
- p.Ser138Arg
- rs2131444271
- ClinGen CA375545528
- ClinVar RCV001370805
- ClinVar RCV004601482
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency; Inborn geneti
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.04
- CADD 14.70
- PolyPhen-2 0.04
- SIFT 0.65
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)