R148W (p.Arg148Trp) variant of CARD9 (Q9H257)
R148W (p.Arg148Trp) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Predisposition to invasive fungal disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
R148W (p.Arg148Trp) variant details
- p.Arg148Trp
- rs149206311
- ClinGen CA5333135
- ClinVar RCV001910889
- ClinVar RCV002553593
- Uncertain significance
- Inborn genetic diseases; not provided; Predisposition to invasive fungal disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.03
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Predisposition to invasiv)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- 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)