I25M (p.Ile25Met) variant of CARD9 (Q9H257)
I25M (p.Ile25Met) 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 0.42 / 1. The record also includes structural context.
I25M (p.Ile25Met) variant details
- p.Ile25Met
- rs139436668
- ClinGen CA375546462
- ClinVar RCV002008931
- ESP rs139436668
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.20
- MetaLR 0.15
- MetaSVM -0.95
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.70
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available