I144F (p.Ile144Phe) variant of CARD9 (Q9H257)
I144F (p.Ile144Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1.
I144F (p.Ile144Phe) variant details
- p.Ile144Phe
- rs977007616
- ClinGen CA375545484
- ClinVar RCV002035954
- TOPMed rs977007616
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.18
- MetaLR 0.08
- MetaSVM -1.09
- PolyPhen-2 0.86
- SIFT 0.14
- EVE 0.37
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance